Linked Data
ClinVar Variation Id:
777103
ClinVar RCV Id:
RCV000957520
dbSNP Id:
rs113109340
ExAC:
1:166961995 G / A
gnomAD v2:
1-166961995-G-A
gnomAD v3:
1-166992758-G-A
gnomAD v4:
1-166992758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.166992758G>A , CM000663.2:g.166992758G>A | GRCh38 |
| NC_000001.10:g.166961995G>A , CM000663.1:g.166961995G>A | GRCh37 |
| NC_000001.9:g.165228619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367872.9:c.398G>A MANE Select | ENSP00000356846.4:p.Arg133His | |
| ENST00000367870.6:c.305G>A | ENSP00000356844.2:p.Arg102His | |
| ENST00000367872.8:c.398G>A | ENSP00000356846.4:p.Arg133His | |
| ENST00000447624.1:c.305G>A | ENSP00000402143.1:p.Arg102His | |
| ENST00000491055.5:n.946G>A | ||
| ENST00000622874.4:c.230G>A | ENSP00000482771.1:p.Arg77His | |
| NM_001286377.1:c.305G>A | NP_001273306.1:p.Arg102His | |
| NM_001286378.1:c.230G>A | NP_001273307.1:p.Arg77His | |
| NM_032858.2:c.398G>A | NP_116247.1:p.Arg133His | |
| XM_006711582.2:c.356G>A | XP_006711645.1:p.Arg119His | |
| XM_006711583.1:c.353G>A | XP_006711646.1:p.Arg118His | |
| XM_011510067.1:c.389G>A | XP_011508369.1:p.Arg130His | |
| XM_011510068.1:c.221G>A | XP_011508370.1:p.Arg74His | |
| XM_017002602.1:c.230G>A | XP_016858091.1:p.Arg77His | |
| XM_017002603.1:c.230G>A | XP_016858092.1:p.Arg77His | |
| NM_032858.3:c.398G>A MANE Select | NP_116247.1:p.Arg133His | |
| NM_001286377.2:c.305G>A | NP_001273306.1:p.Arg102His | |
| NM_001286378.2:c.230G>A | NP_001273307.1:p.Arg77His |