Gene >> GEM
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297596 |
| Start |
94250482:94250482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771063860
|
| CDS Mutation |
c.719G>A |
| AA Mutation |
p.Arg240His(p.R240H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297596 |
| Start |
94260359:94260359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774085906
|
| CDS Mutation |
c.145A>G |
| AA Mutation |
p.Thr49Ala(p.T49A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |