Linked Data
ClinVar Variation Id:
476204
dbSNP Id:
rs374127769
ExAC:
17:45299153 G / A
gnomAD v2:
17-45299153-G-A
gnomAD v3:
17-47221787-G-A
gnomAD v4:
17-47221787-G-A
COSMIC:
COSM1383898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221787G>A , CM000679.2:g.47221787G>A | GRCh38 |
| NC_000017.10:g.45299153G>A , CM000679.1:g.45299153G>A | GRCh37 |
| NC_000017.9:g.42654152G>A | NCBI36 |
| NG_052847.1:g.17771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.419G>A | ENSP00000347055.1:p.Arg140His | |
| ENST00000393450.5:c.419G>A MANE Select | ENSP00000377096.1:p.Arg140His | |
| ENST00000536623.6:c.419G>A | ENSP00000442375.2:p.Arg140His | |
| ENST00000570671.1:c.130G>A | ||
| ENST00000570772.5:c.*205G>A | ENSP00000458194.1:n.*205G>A | |
| ENST00000571981.5:c.*205G>A | ENSP00000459035.1:n.*205G>A | |
| ENST00000572303.1:c.512G>A | ENSP00000461747.1:p.Arg171His | |
| ENST00000572316.5:c.419G>A | ENSP00000461570.1:p.Arg140His | |
| ENST00000573747.6:c.*21G>A | ENSP00000460734.1:n.*21G>A | |
| ENST00000576874.5:c.419G>A | ENSP00000458907.1:p.Arg140His | |
| NM_001002841.1:c.419G>A | NP_001002841.1:p.Arg140His | |
| NM_002476.2:c.419G>A MANE Select | NP_002467.1:p.Arg140His | |
| XM_005257391.3:c.419G>A | XP_005257448.1:p.Arg140His | |
| XM_011524838.1:c.419G>A | XP_011523140.1:p.Arg140His | |
| XM_011524839.1:c.209G>A | XP_011523141.1:p.Arg70His | |
| XM_005257391.5:c.419G>A | XP_005257448.1:p.Arg140His | |
| XM_011524839.2:c.512G>A | XP_011523141.2:p.Arg171His | |
| XM_017024683.1:c.512G>A | XP_016880172.1:p.Arg171His | |
| XM_024450766.1:c.512G>A | XP_024306534.1:p.Arg171His | |
| NM_001002841.2:c.419G>A | NP_001002841.1:p.Arg140His |