Linked Data
ClinVar Variation Id:
3123503
ClinVar RCV Id:
RCV004411350
dbSNP Id:
rs763034228
ExAC:
5:10430101 G / A
gnomAD v2:
5-10430101-G-A
gnomAD v3:
5-10429989-G-A
gnomAD v4:
5-10429989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10429989G>A , CM000667.2:g.10429989G>A | GRCh38 |
| NC_000005.9:g.10430101G>A , CM000667.1:g.10430101G>A | GRCh37 |
| NC_000005.8:g.10483101G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274140.10:c.2603G>A MANE Select | ENSP00000274140.4:p.Arg868His | |
| ENST00000274140.9:c.2603G>A | ENSP00000274140.4:p.Arg868His | |
| ENST00000449913.6:c.2459G>A | ENSP00000414643.2:p.Arg820His | |
| ENST00000503788.5:c.2288G>A | ENSP00000425930.1:p.Arg763His | |
| ENST00000510792.1:c.1697G>A | ENSP00000424512.1:p.Arg566His | |
| ENST00000511802.5:n.4003G>A | ||
| NM_001270660.1:c.2459G>A | NP_001257589.1:p.Arg820His | |
| NM_001270661.1:c.2288G>A | NP_001257590.1:p.Arg763His | |
| NM_005885.3:c.2603G>A | NP_005876.2:p.Arg868His | |
| XM_011513932.1:c.2399G>A | XP_011512234.1:p.Arg800His | |
| XM_011513933.1:c.2273G>A | XP_011512235.1:p.Arg758His | |
| XM_011513935.1:c.2129G>A | XP_011512237.1:p.Arg710His | |
| XM_011513937.1:c.1403G>A | XP_011512239.1:p.Arg468His | |
| XR_925576.1:n.2691G>A | ||
| XM_011513932.2:c.2399G>A | XP_011512234.1:p.Arg800His | |
| XR_925576.3:n.2676G>A | ||
| NM_005885.4:c.2603G>A MANE Select | NP_005876.2:p.Arg868His | |
| NM_001270660.2:c.2459G>A | NP_001257589.1:p.Arg820His | |
| NM_001270661.2:c.2288G>A | NP_001257590.1:p.Arg763His |