Linked Data
ClinVar Variation Id:
2546331
ClinVar RCV Id:
RCV004315093
dbSNP Id:
rs1455685520
gnomAD v2:
3-49363170-T-A
gnomAD v3:
3-49325737-T-A
gnomAD v4:
3-49325737-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49325737T>A , CM000665.2:g.49325737T>A | GRCh38 |
| NC_000003.11:g.49363170T>A , CM000665.1:g.49363170T>A | GRCh37 |
| NC_000003.10:g.49338174T>A | NCBI36 |
| NG_030370.1:g.19367A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265560.9:c.469A>T MANE Select | ENSP00000265560.4:p.Ser157Cys | |
| ENST00000265560.8:c.469A>T | ENSP00000265560.4:p.Ser157Cys | |
| ENST00000351842.8:c.469A>T | ENSP00000341028.4:p.Ser157Cys | |
| ENST00000415188.1:c.469A>T | ENSP00000408274.1:p.Ser157Cys | |
| ENST00000416417.5:c.469A>T | ENSP00000400623.1:p.Ser157Cys | |
| ENST00000464168.5:n.370A>T | ||
| ENST00000486549.5:n.237+1949A>T | ||
| ENST00000491791.1:n.597A>T | ||
| NM_001251877.1:c.469A>T | NP_001238806.1:p.Ser157Cys | |
| NM_003363.3:c.469A>T | NP_003354.2:p.Ser157Cys | |
| NM_199443.2:c.469A>T | NP_955475.1:p.Ser157Cys | |
| NM_001251877.2:c.469A>T | NP_001238806.1:p.Ser157Cys | |
| NM_003363.4:c.469A>T MANE Select | NP_003354.2:p.Ser157Cys | |
| NM_199443.3:c.469A>T | NP_955475.1:p.Ser157Cys |