Linked Data
ClinVar Variation Id:
225532
ClinVar RCV Id:
RCV000210914
dbSNP Id:
rs370384522
ExAC:
2:174231033 G / A
gnomAD v2:
2-174231033-G-A
gnomAD v4:
2-173366305-G-A
COSMIC:
COSM1009702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366305G>A , CM000664.2:g.173366305G>A | GRCh38 |
| NC_000002.11:g.174231033G>A , CM000664.1:g.174231033G>A | GRCh37 |
| NC_000002.10:g.173939279G>A | NCBI36 |
| NG_047202.1:g.17289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.798+713G>A | ENSP00000512251.1:n.798+713G>A | |
| ENST00000695911.1:c.836G>A | ENSP00000512262.1:n.836G>A | |
| ENST00000695912.1:c.1055G>A | ENSP00000512263.1:p.Arg352His | |
| ENST00000695913.1:c.*1811G>A | ENSP00000512264.1:n.*1811G>A | |
| ENST00000695914.1:c.818G>A | ENSP00000512265.1:p.Arg273His | |
| ENST00000695918.1:n.286G>A | ||
| ENST00000306721.8:c.1058G>A MANE Select | ENSP00000306968.3:p.Arg353His | |
| ENST00000306721.7:c.1058G>A | ENSP00000306968.3:p.Arg353His | |
| ENST00000347703.7:c.821G>A | ENSP00000272789.4:p.Arg274His | |
| ENST00000410019.3:c.695G>A | ENSP00000386833.3:p.Arg232His | |
| ENST00000410101.7:c.926G>A | ENSP00000386656.3:p.Arg309His | |
| ENST00000467411.5:n.1768+713G>A | ||
| ENST00000496441.5:n.1812G>A | ||
| NM_031942.4:c.1058G>A | NP_114148.3:p.Arg353His | |
| NM_145810.2:c.821G>A | NP_665809.1:p.Arg274His | |
| XM_011511957.1:c.977G>A | XP_011510259.1:p.Arg326His | |
| XR_923034.1:n.1956G>A | ||
| NM_031942.5:c.1058G>A MANE Select | NP_114148.3:p.Arg353His | |
| NM_145810.3:c.821G>A | NP_665809.1:p.Arg274His |