Linked Data
ClinVar Variation Id:
2480884
ClinVar RCV Id:
RCV003194637
dbSNP Id:
rs1311604156
gnomAD v2:
3-50380558-C-T
gnomAD v3:
3-50343127-C-T
gnomAD v4:
3-50343127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343127C>T , CM000665.2:g.50343127C>T | GRCh38 |
| NC_000003.11:g.50380558C>T , CM000665.1:g.50380558C>T | GRCh37 |
| NC_000003.10:g.50355562C>T | NCBI36 |
| NG_023270.1:g.2810G>A | |
| NG_042828.1:g.7620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.590G>A MANE Select | ENSP00000231749.3:p.Cys197Tyr | |
| ENST00000231749.7:c.590G>A | ENSP00000231749.3:p.Cys197Tyr | |
| ENST00000360165.7:c.590G>A | ENSP00000353289.3:p.Cys197Tyr | |
| ENST00000442887.1:c.461G>A | ENSP00000393687.1:p.Cys154Tyr | |
| ENST00000443080.5:c.*342G>A | ENSP00000415661.1:n.*342G>A | |
| ENST00000475688.1:n.42G>A | ||
| NM_001308379.1:c.590G>A | NP_001295308.1:p.Cys197Tyr | |
| NM_015896.2:c.590G>A | NP_056980.2:p.Cys197Tyr | |
| NM_015896.3:c.590G>A | NP_056980.2:p.Cys197Tyr | |
| XM_005265216.2:c.353G>A | XP_005265273.1:p.Cys118Tyr | |
| XM_005265216.3:c.353G>A | XP_005265273.1:p.Cys118Tyr | |
| NM_015896.4:c.590G>A MANE Select | NP_056980.2:p.Cys197Tyr | |
| NM_001308379.2:c.590G>A | NP_001295308.1:p.Cys197Tyr |