Linked Data
ClinVar Variation Id:
225531
dbSNP Id:
rs772929976
ExAC:
2:174231123 G / A
gnomAD v2:
2-174231123-G-A
gnomAD v3:
2-173366395-G-A
gnomAD v4:
2-173366395-G-A
COSMIC:
COSM2152182
PubMed:
PMID:26216346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366395G>A , CM000664.2:g.173366395G>A | GRCh38 |
| NC_000002.11:g.174231123G>A , CM000664.1:g.174231123G>A | GRCh37 |
| NC_000002.10:g.173939369G>A | NCBI36 |
| NG_047202.1:g.17379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.799-755G>A | ENSP00000512251.1:n.799-755G>A | |
| ENST00000695911.1:c.926G>A | ENSP00000512262.1:n.926G>A | |
| ENST00000695912.1:c.1145G>A | ENSP00000512263.1:p.Arg382His | |
| ENST00000695913.1:c.*1901G>A | ENSP00000512264.1:n.*1901G>A | |
| ENST00000695914.1:c.908G>A | ENSP00000512265.1:p.Arg303His | |
| ENST00000695918.1:n.376G>A | ||
| ENST00000306721.8:c.1148G>A MANE Select | ENSP00000306968.3:p.Arg383His | |
| ENST00000306721.7:c.1148G>A | ENSP00000306968.3:p.Arg383His | |
| ENST00000347703.7:c.911G>A | ENSP00000272789.4:p.Arg304His | |
| ENST00000410019.3:c.785G>A | ENSP00000386833.3:p.Arg262His | |
| ENST00000410101.7:c.1016G>A | ENSP00000386656.3:p.Arg339His | |
| ENST00000467411.5:n.1769-755G>A | ||
| ENST00000496441.5:n.1902G>A | ||
| NM_031942.4:c.1148G>A | NP_114148.3:p.Arg383His | |
| NM_145810.2:c.911G>A | NP_665809.1:p.Arg304His | |
| XM_011511957.1:c.1067G>A | XP_011510259.1:p.Arg356His | |
| XR_923034.1:n.2046G>A | ||
| NM_031942.5:c.1148G>A MANE Select | NP_114148.3:p.Arg383His | |
| NM_145810.3:c.911G>A | NP_665809.1:p.Arg304His |