Gene >> GGH
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260118 |
| Start |
63027231:63027231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs528348849
|
| CDS Mutation |
c.310C>T |
| AA Mutation |
p.Arg104Cys(p.R104C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260118 |
| Start |
63030195:63030195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755491329
|
| CDS Mutation |
c.247T>A |
| AA Mutation |
p.Tyr83Asn(p.Y83N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |