Linked Data
ClinVar Variation Id:
737795
ClinVar RCV Id:
RCV000913601
dbSNP Id:
rs374292482
ExAC:
19:10226743 C / A
gnomAD v2:
19-10226743-C-A
gnomAD v3:
19-10116067-C-A
gnomAD v4:
19-10116067-C-A
COSMIC:
COSM5619882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10116067C>A , CM000681.2:g.10116067C>A | GRCh38 |
| NC_000019.9:g.10226743C>A , CM000681.1:g.10226743C>A | GRCh37 |
| NC_000019.8:g.10087743C>A | NCBI36 |
| NG_047007.1:g.9547C>A | |
| NG_051197.1:g.8858G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.603G>T MANE Select | ENSP00000253108.3:p.Glu201Asp | |
| ENST00000253108.8:c.603G>T | ENSP00000253108.3:p.Glu201Asp | |
| ENST00000587146.5:c.498G>T | ENSP00000468159.1:p.Glu166Asp | |
| ENST00000588709.5:c.609G>T | ENSP00000465882.1:p.Glu203Asp | |
| ENST00000589009.5:n.1505G>T | ||
| ENST00000589454.5:c.579G>T | ENSP00000466860.1:p.Glu193Asp | |
| ENST00000590158.1:n.622G>T | ||
| ENST00000593054.5:c.36G>T | ENSP00000467187.1:p.Glu12Asp | |
| NM_003755.3:c.603G>T | NP_003746.2:p.Glu201Asp | |
| NM_003755.4:c.603G>T | NP_003746.2:p.Glu201Asp | |
| NM_003755.5:c.603G>T MANE Select | NP_003746.2:p.Glu201Asp |