| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341640 |
| Start |
127611672:127611672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529976183
|
| CDS Mutation |
c.752C>A |
| AA Mutation |
p.Ser251Tyr(p.S251Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341640 |
| Start |
127615512:127615512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9G>T |
| AA Mutation |
p.Gln3His(p.Q3H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000341640 |
| Start |
127615033:127615033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.183A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |