Linked Data
ClinVar Variation Id:
100489
ClinVar RCV Id:
RCV000086903
dbSNP Id:
rs62641243
gnomAD v4:
12-5952428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5952428C>T , CM000674.2:g.5952428C>T | GRCh38 |
| NC_000012.11:g.6061594C>T , CM000674.1:g.6061594C>T | GRCh37 |
| NC_000012.10:g.5931855C>T | NCBI36 |
| NG_009072.1:g.177243G>A | |
| NG_009072.2:g.177243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8078G>A MANE Select | ENSP00000261405.5:p.Cys2693Tyr | |
| ENST00000261405.9:c.8078G>A | ENSP00000261405.5:p.Cys2693Tyr | |
| ENST00000612016.1:n.487G>A | ||
| ENST00000621700.1:n.396G>A | ||
| NM_000552.3:c.8078G>A | NP_000543.2:p.Cys2693Tyr | |
| NM_000552.4:c.8078G>A | NP_000543.2:p.Cys2693Tyr | |
| NM_000552.5:c.8078G>A MANE Select | NP_000543.3:p.Cys2693Tyr |