Linked Data
ClinVar Variation Id:
198190
ClinVar RCV Id:
RCV000023512
RCV000200201
RCV000515386
RCV000724125
RCV001155464
RCV001155463
RCV004537488
dbSNP Id:
rs150771247
ExAC:
4:6293695 G / A
gnomAD v2:
4-6293695-G-A
gnomAD v3:
4-6291968-G-A
gnomAD v4:
4-6291968-G-A
PubMed:
PMID:25133958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291968G>A , CM000666.2:g.6291968G>A | GRCh38 |
| NC_000004.11:g.6293695G>A , CM000666.1:g.6293695G>A | GRCh37 |
| NC_000004.10:g.6344596G>A | NCBI36 |
| NG_011700.1:g.27119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.683G>A | ENSP00000507852.1:p.Arg228His | |
| ENST00000683395.1:c.660G>A | ||
| ENST00000684087.1:c.683G>A | ENSP00000506978.1:p.Arg228His | |
| ENST00000506362.2:c.434G>A | ENSP00000424103.2:p.Arg145His | |
| ENST00000673642.1:c.482G>A | ENSP00000501242.1:p.Arg161His | |
| ENST00000673991.1:c.683G>A | ENSP00000501033.1:p.Arg228His | |
| ENST00000226760.5:c.683G>A MANE Select | ENSP00000226760.1:p.Arg228His | |
| ENST00000503569.5:c.683G>A | ENSP00000423337.1:p.Arg228His | |
| ENST00000506362.1:c.280G>A | ||
| ENST00000507765.1:n.868G>A | ||
| NM_001145853.1:c.683G>A | NP_001139325.1:p.Arg228His | |
| NM_006005.3:c.683G>A MANE Select | NP_005996.2:p.Arg228His | |
| XM_017008586.1:c.692G>A | XP_016864075.1:p.Arg231His |