Linked Data
ClinVar Variation Id:
425647
dbSNP Id:
rs764780528
ExAC:
7:94040384 G / A
gnomAD v2:
7-94040384-G-A
gnomAD v3:
7-94411072-G-A
gnomAD v4:
7-94411072-G-A
COSMIC:
COSM3685254
PubMed:
PMID:25944380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94411072G>A , CM000669.2:g.94411072G>A | GRCh38 |
| NC_000007.13:g.94040384G>A , CM000669.1:g.94040384G>A | GRCh37 |
| NC_000007.12:g.93878320G>A | NCBI36 |
| NG_007405.1:g.21512G>A , LRG_2:g.21512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1268G>A MANE Select | ENSP00000297268.6:p.Arg423His | |
| ENST00000297268.10:c.1268G>A | ENSP00000297268.6:p.Arg423His | |
| ENST00000620463.1:c.1262G>A | ENSP00000477719.1:p.Arg421His | |
| NM_000089.3:c.1268G>A , LRG_2t1:c.1268G>A | NP_000080.2:p.Arg423His | |
| NM_000089.4:c.1268G>A MANE Select | NP_000080.2:p.Arg423His |