Linked Data
ClinVar Variation Id:
13614
dbSNP Id:
rs104893765
ExAC:
3:87311310 C / T
gnomAD v2:
3-87311310-C-T
gnomAD v4:
3-87262160-C-T
PubMed:
PMID:15928241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262160C>T , CM000665.2:g.87262160C>T | GRCh38 |
| NC_000003.11:g.87311310C>T , CM000665.1:g.87311310C>T | GRCh37 |
| NC_000003.10:g.87394000C>T | NCBI36 |
| NG_008225.2:g.19428G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.593G>A | ENSP00000342931.3:p.Arg198Gln | |
| ENST00000350375.7:c.515G>A MANE Select | ENSP00000263781.2:p.Arg172Gln | |
| ENST00000344265.7:c.593G>A | ENSP00000342931.3:p.Arg198Gln | |
| ENST00000350375.6:c.515G>A | ENSP00000263781.2:p.Arg172Gln | |
| ENST00000560656.1:c.440-2056G>A | ENSP00000452610.1:n.440-2056G>A | |
| ENST00000561167.5:c.290G>A | ENSP00000454072.1:p.Arg97Gln | |
| NM_000306.3:c.515G>A | NP_000297.1:p.Arg172Gln | |
| NM_001122757.2:c.593G>A | NP_001116229.1:p.Arg198Gln | |
| NM_000306.4:c.515G>A MANE Select | NP_000297.1:p.Arg172Gln | |
| NM_001122757.3:c.593G>A | NP_001116229.1:p.Arg198Gln |