Linked Data
ClinVar Variation Id:
2596282
ClinVar RCV Id:
RCV004340480
dbSNP Id:
rs761839957
ExAC:
1:43296673 G / A
gnomAD v2:
1-43296673-G-A
gnomAD v3:
1-42831002-G-A
gnomAD v4:
1-42831002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42831002G>A , CM000663.2:g.42831002G>A | GRCh38 |
| NC_000001.10:g.43296673G>A , CM000663.1:g.43296673G>A | GRCh37 |
| NC_000001.9:g.43069260G>A | NCBI36 |
| NG_008749.1:g.18898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.320G>A MANE Select | ENSP00000361595.2:p.Gly107Glu | |
| ENST00000487556.6:n.452-4036G>A | ||
| ENST00000642150.1:n.507G>A | ||
| ENST00000647120.1:n.248-4036G>A | ||
| ENST00000328249.3:c.50G>A | ENSP00000332439.3:p.Gly17Glu | |
| ENST00000372514.7:c.320G>A | ENSP00000361592.3:p.Gly107Glu | |
| ENST00000372517.6:c.320G>A | ENSP00000361595.2:p.Gly107Glu | |
| ENST00000487556.5:n.247-4036G>A | ||
| NM_001017922.1:c.320G>A | NP_001017922.1:p.Gly107Glu | |
| NM_018538.3:c.320G>A | NP_061008.2:p.Gly107Glu | |
| XM_006710313.2:c.320G>A | XP_006710376.1:p.Gly107Glu | |
| XM_011540570.1:c.320G>A | XP_011538872.1:p.Gly107Glu | |
| XM_011540571.1:c.320G>A | XP_011538873.1:p.Gly107Glu | |
| XM_006710313.4:c.320G>A | XP_006710376.1:p.Gly107Glu | |
| XM_011540570.3:c.320G>A | XP_011538872.1:p.Gly107Glu | |
| XM_011540571.3:c.320G>A | XP_011538873.1:p.Gly107Glu | |
| NM_001017922.2:c.320G>A MANE Select | NP_001017922.1:p.Gly107Glu | |
| NM_018538.4:c.320G>A | NP_061008.2:p.Gly107Glu |