Linked Data
ClinVar Variation Id:
627583
ClinVar RCV Id:
RCV000770974
dbSNP Id:
rs1565722031
gnomAD v4:
12-48981516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981516G>A , CM000674.2:g.48981516G>A | GRCh38 |
| NC_000012.11:g.49375299G>A , CM000674.1:g.49375299G>A | GRCh37 |
| NC_000012.10:g.47661566G>A | NCBI36 |
| NG_033141.1:g.8064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.989G>A MANE Select | ENSP00000293549.3:p.Cys330Tyr | |
| ENST00000293549.3:c.989G>A | ENSP00000293549.3:p.Cys330Tyr | |
| ENST00000613114.4:c.956G>A | ENSP00000481240.1:p.Cys319Tyr | |
| NM_005430.3:c.989G>A | NP_005421.1:p.Cys330Tyr | |
| NM_005430.4:c.989G>A MANE Select | NP_005421.1:p.Cys330Tyr |