Linked Data
ClinVar Variation Id:
1357
dbSNP Id:
rs118203982
ExAC:
6:24505099 G / A
gnomAD v2:
6-24505099-G-A
gnomAD v3:
6-24504871-G-A
gnomAD v4:
6-24504871-G-A
COSMIC:
COSM3623222
PubMed:
PMID:14635103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24504871G>A , CM000668.2:g.24504871G>A | GRCh38 |
| NC_000006.11:g.24505099G>A , CM000668.1:g.24505099G>A | GRCh37 |
| NC_000006.10:g.24613078G>A | NCBI36 |
| NG_008161.1:g.14903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.612G>A MANE Select | ENSP00000350191.3:p.Trp204Ter | |
| ENST00000672352.1:c.375G>A | ENSP00000500876.1:p.Trp125Ter | |
| ENST00000672557.1:c.530G>A | ||
| ENST00000672652.1:c.533G>A | ||
| ENST00000675422.1:n.1372G>A | ||
| ENST00000348925.2:c.612G>A | ENSP00000314649.3:p.Trp204Ter | |
| ENST00000357578.7:c.612G>A | ENSP00000350191.3:p.Trp204Ter | |
| ENST00000491546.5:c.528G>A | ENSP00000417687.1:p.Trp176Ter | |
| NM_001080.3:c.612G>A MANE Select | NP_001071.1:p.Trp204Ter | |
| NM_170740.1:c.612G>A | NP_733936.1:p.Trp204Ter | |
| NM_001368954.1:c.612G>A | NP_001355883.1:p.Trp204Ter |