Linked Data
ClinVar Variation Id:
161854
ClinVar RCV Id:
RCV000149390
dbSNP Id:
rs193920831
ExAC:
1:158911789 G / A
gnomAD v2:
1-158911789-G-A
gnomAD v3:
1-158941999-G-A
gnomAD v4:
1-158941999-G-A
COSMIC:
COSM1179625
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158941999G>A , CM000663.2:g.158941999G>A | GRCh38 |
| NC_000001.10:g.158911789G>A , CM000663.1:g.158911789G>A | GRCh37 |
| NC_000001.9:g.157178413G>A | NCBI36 |
| NG_029756.1:g.15453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368140.6:c.602G>A MANE Select | ENSP00000357122.1:p.Arg201His | |
| ENST00000368138.7:c.575G>A | ENSP00000357120.3:p.Arg192His | |
| ENST00000368140.5:c.602G>A | ENSP00000357122.1:p.Arg201His | |
| ENST00000392252.7:c.575G>A | ENSP00000376082.3:p.Arg192His | |
| ENST00000392254.6:c.602G>A | ENSP00000376083.2:p.Arg201His | |
| ENST00000485134.1:n.23G>A | ||
| NM_152501.4:c.602G>A | NP_689714.2:p.Arg201His | |
| NM_198928.4:c.575G>A | NP_945146.1:p.Arg192His | |
| NM_198929.4:c.602G>A | NP_945147.1:p.Arg201His | |
| NM_198930.3:c.575G>A | NP_945148.1:p.Arg192His | |
| XM_011509242.1:c.602G>A | XP_011507544.1:p.Arg201His | |
| XM_011509243.1:c.602G>A | XP_011507545.1:p.Arg201His | |
| XM_011509242.2:c.602G>A | XP_011507544.1:p.Arg201His | |
| XM_011509243.2:c.602G>A | XP_011507545.1:p.Arg201His | |
| XM_017000463.1:c.602G>A | XP_016855952.1:p.Arg201His | |
| XR_001737000.1:n.852G>A | ||
| XR_001737001.1:n.1195G>A | ||
| XR_001737002.1:n.593G>A | ||
| NM_152501.5:c.602G>A MANE Select | NP_689714.2:p.Arg201His | |
| NM_198928.5:c.575G>A | NP_945146.1:p.Arg192His | |
| NM_198929.5:c.602G>A | NP_945147.1:p.Arg201His | |
| NM_198930.4:c.575G>A | NP_945148.1:p.Arg192His |