Linked Data
ClinVar Variation Id:
3548
dbSNP Id:
rs267606876
ExAC:
3:100962459 G / A
gnomAD v2:
3-100962459-G-A
gnomAD v3:
3-101243615-G-A
gnomAD v4:
3-101243615-G-A
COSMIC:
COSM2915326
PubMed:
PMID:20673862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101243615G>A , CM000665.2:g.101243615G>A | GRCh38 |
| NC_000003.11:g.100962459G>A , CM000665.1:g.100962459G>A | GRCh37 |
| NC_000003.10:g.102445149G>A | NCBI36 |
| NG_028284.1:g.81961C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000193391.8:c.2716C>T MANE Select | ENSP00000193391.6:p.Arg906Ter | |
| ENST00000193391.7:c.2716C>T | ENSP00000193391.6:p.Arg906Ter | |
| NM_016247.3:c.2716C>T | NP_057331.2:p.Arg906Ter | |
| XM_011512871.1:c.2422C>T | XP_011511173.1:p.Arg808Ter | |
| XM_011512872.1:c.2305C>T | XP_011511174.1:p.Arg769Ter | |
| NM_016247.4:c.2716C>T MANE Select | NP_057331.2:p.Arg906Ter |