Linked Data
ClinVar Variation Id:
5846
dbSNP Id:
rs62638208
ExAC:
5:178413690 C / T
gnomAD v2:
5-178413690-C-T
gnomAD v3:
5-178986689-C-T
gnomAD v4:
5-178986689-C-T
PubMed:
PMID:16249515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178986689C>T , CM000667.2:g.178986689C>T | GRCh38 |
| NC_000005.9:g.178413690C>T , CM000667.1:g.178413690C>T | GRCh37 |
| NC_000005.8:g.178346296C>T | NCBI36 |
| NG_008105.1:g.13435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.1565G>A MANE Select | ENSP00000430767.1:p.Cys522Tyr | |
| ENST00000650031.1:c.1565G>A | ENSP00000497110.1:p.Cys522Tyr | |
| ENST00000231188.9:c.1565G>A | ENSP00000231188.5:p.Cys522Tyr | |
| ENST00000517717.1:c.1565G>A | ENSP00000430767.1:p.Cys522Tyr | |
| ENST00000518082.1:n.333G>A | ||
| NM_000843.3:c.1565G>A | NP_000834.2:p.Cys522Tyr | |
| XR_941310.1:n.1470-3058C>T | ||
| NM_000843.4:c.1565G>A MANE Select | NP_000834.2:p.Cys522Tyr |