Linked Data
ClinVar Variation Id:
747339
ClinVar RCV Id:
RCV000924038
dbSNP Id:
rs747873093
ExAC:
19:36223932 G / A
gnomAD v2:
19-36223932-G-A
gnomAD v3:
19-35733031-G-A
gnomAD v4:
19-35733031-G-A
COSMIC:
COSM4650477
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733031G>A , CM000681.2:g.35733031G>A | GRCh38 |
| NC_000019.9:g.36223932G>A , CM000681.1:g.36223932G>A | GRCh37 |
| NC_000019.8:g.40915772G>A | NCBI36 |
| NG_052906.1:g.20013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.788G>A | ||
| ENST00000673918.2:c.6416G>A | ENSP00000501283.1:p.Arg2139His | |
| ENST00000674114.2:c.4023G>A | ENSP00000501039.2:n.4023G>A | |
| ENST00000684977.1:c.1700G>A | ENSP00000509384.1:p.Arg567His | |
| ENST00000689544.1:n.1635G>A | ||
| ENST00000691421.1:c.1703G>A | ENSP00000508674.1:p.Arg568His | |
| ENST00000691855.1:c.6024G>A | ||
| ENST00000692961.1:c.6482G>A | ENSP00000509289.1:p.Arg2161His | |
| ENST00000693677.1:c.705-566G>A | ENSP00000509779.1:n.705-566G>A | |
| ENST00000420124.4:c.6482G>A MANE Select | ENSP00000398837.2:p.Arg2161His | |
| ENST00000673918.1:c.6416G>A | ENSP00000501283.1:p.Arg2139His | |
| ENST00000674114.1:c.3804G>A | ||
| ENST00000420124.2:c.6482G>A | ENSP00000398837.1:p.Arg2161His | |
| NM_014727.2:c.6482G>A | NP_055542.1:p.Arg2161His | |
| XM_011527561.1:c.6416G>A | XP_011525863.1:p.Arg2139His | |
| XM_011527562.1:c.6482G>A | XP_011525864.1:p.Arg2161His | |
| XM_011527563.1:c.6206G>A | XP_011525865.1:p.Arg2069His | |
| XM_011527561.2:c.5918G>A | XP_011525863.2:p.Arg1973His | |
| XM_011527562.2:c.6482G>A | XP_011525864.1:p.Arg2161His | |
| XM_017027544.1:c.6482G>A | XP_016883033.1:p.Arg2161His | |
| XM_017027545.1:c.5918G>A | XP_016883034.1:p.Arg1973His | |
| XM_017027546.1:c.3446G>A | XP_016883035.1:p.Arg1149His | |
| NM_014727.3:c.6482G>A MANE Select | NP_055542.1:p.Arg2161His |