Linked Data
ClinVar Variation Id:
373579
ClinVar RCV Id:
RCV000412925
dbSNP Id:
rs200163249
ExAC:
1:32669596 G / A
gnomAD v2:
1-32669596-G-A
gnomAD v4:
1-32203995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32203995G>A , CM000663.2:g.32203995G>A | GRCh38 |
| NC_000001.10:g.32669596G>A , CM000663.1:g.32669596G>A | GRCh37 |
| NC_000001.9:g.32442183G>A | NCBI36 |
| NG_012178.1:g.8395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373602.10:c.281G>A MANE Select | ENSP00000362704.5:p.Gly94Glu | |
| ENST00000680046.1:n.2140G>A | ||
| ENST00000680626.1:n.2157G>A | ||
| ENST00000681089.1:n.766G>A | ||
| ENST00000681230.1:c.281G>A | ENSP00000506476.1:p.Gly94Glu | |
| ENST00000373602.9:c.281G>A | ENSP00000362704.5:p.Gly94Glu | |
| ENST00000421922.6:c.281G>A | ENSP00000413017.2:p.Gly94Glu | |
| ENST00000461819.5:c.281G>A | ENSP00000431257.1:p.Gly94Glu | |
| ENST00000483009.1:n.521G>A | ||
| NM_001301011.1:c.281G>A | NP_001287940.1:p.Gly94Glu | |
| NM_024296.4:c.281G>A | NP_077272.2:p.Gly94Glu | |
| XM_011542113.1:c.281G>A | XP_011540415.1:p.Gly94Glu | |
| XM_011542113.3:c.281G>A | XP_011540415.1:p.Gly94Glu | |
| XM_017002306.2:c.281G>A | XP_016857795.1:p.Gly94Glu | |
| XM_017002307.1:c.281G>A | XP_016857796.1:p.Gly94Glu | |
| XM_017002308.2:c.281G>A | XP_016857797.1:p.Gly94Glu | |
| XM_017002309.2:c.281G>A | XP_016857798.1:p.Gly94Glu | |
| NM_001301011.2:c.281G>A | NP_001287940.1:p.Gly94Glu | |
| NM_024296.5:c.281G>A MANE Select | NP_077272.2:p.Gly94Glu |