Linked Data
ClinVar Variation Id:
18170
ClinVar RCV Id:
RCV000019800
dbSNP Id:
rs121912685
ExAC:
4:74308073 G / A
gnomAD v2:
4-74308073-G-A
gnomAD v3:
4-73442356-G-A
gnomAD v4:
4-73442356-G-A
COSMIC:
COSM1671075
PubMed:
PMID:18854864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442356G>A , CM000666.2:g.73442356G>A | GRCh38 |
| NC_000004.11:g.74308073G>A , CM000666.1:g.74308073G>A | GRCh37 |
| NC_000004.10:g.74526937G>A | NCBI36 |
| NG_023028.1:g.11141G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395792.7:c.543G>A MANE Select | ENSP00000379138.2:p.Trp181Ter | |
| ENST00000226359.2:c.543G>A | ENSP00000226359.2:p.Trp181Ter | |
| ENST00000395792.6:c.543G>A | ENSP00000379138.2:p.Trp181Ter | |
| NM_001134.2:c.543G>A | NP_001125.1:p.Trp181Ter | |
| XM_011531704.1:c.540G>A | XP_011530006.1:p.Trp180Ter | |
| NM_001354717.1:c.69G>A | NP_001341646.1:p.Trp23Ter | |
| NM_001134.3:c.543G>A MANE Select | NP_001125.1:p.Trp181Ter | |
| NM_001354717.2:c.69G>A | NP_001341646.2:p.Trp23Ter |