Linked Data
ClinVar Variation Id:
208186
ClinVar RCV Id:
RCV000190382
dbSNP Id:
rs796064507
gnomAD v4:
5-1201796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1201796G>A , CM000667.2:g.1201796G>A | GRCh38 |
| NC_000005.9:g.1201911G>A , CM000667.1:g.1201911G>A | GRCh37 |
| NC_000005.8:g.1254911G>A | NCBI36 |
| NG_008282.1:g.5202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.146G>A MANE Select | ENSP00000305302.10:p.Cys49Tyr | |
| ENST00000304460.10:c.146G>A | ENSP00000305302.10:p.Cys49Tyr | |
| ENST00000515652.5:c.146G>A | ENSP00000425701.1:p.Cys49Tyr | |
| NM_001003841.2:c.146G>A | NP_001003841.1:p.Cys49Tyr | |
| NM_001003841.3:c.146G>A MANE Select | NP_001003841.1:p.Cys49Tyr |