Gene >> HPR
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000540303 |
| Start |
72076705:72076705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.671C>T |
| AA Mutation |
p.Ser224Phe(p.S224F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000540303 |
| Start |
72076390:72076390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.356C>T |
| AA Mutation |
p.Ala119Val(p.A119V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |