Linked Data
ClinVar Variation Id:
310507
dbSNP Id:
rs201273759
ExAC:
12:81101779 G / A
gnomAD v2:
12-81101779-G-A
gnomAD v4:
12-80708000-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80708000G>A , CM000674.2:g.80708000G>A | GRCh38 |
| NC_000012.11:g.81101779G>A , CM000674.1:g.81101779G>A | GRCh37 |
| NC_000012.10:g.79625910G>A | NCBI36 |
| NG_021392.1:g.5372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228641.4:c.281G>A MANE Select | ENSP00000228641.3:p.Arg94Gln | |
| ENST00000228641.3:c.281G>A | ENSP00000228641.3:p.Arg94Gln | |
| NM_002469.2:c.281G>A | NP_002460.1:p.Arg94Gln | |
| NM_002469.3:c.281G>A MANE Select | NP_002460.1:p.Arg94Gln |