Linked Data
ClinVar Variation Id:
190367
dbSNP Id:
rs748860341
ExAC:
17:42987511 C / T
gnomAD v2:
17-42987511-C-T
gnomAD v4:
17-44910143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44910143C>T , CM000679.2:g.44910143C>T | GRCh38 |
| NC_000017.10:g.42987511C>T , CM000679.1:g.42987511C>T | GRCh37 |
| NC_000017.9:g.40343037C>T | NCBI36 |
| NG_008401.1:g.10404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1289G>A | ENSP00000253408.5:p.Arg430His | |
| ENST00000435360.8:c.1289G>A | ENSP00000403962.1:p.Arg430His | |
| ENST00000253408.10:c.1289G>A | ENSP00000253408.5:p.Arg430His | |
| ENST00000435360.7:c.1289G>A | ENSP00000403962.1:p.Arg430His | |
| ENST00000585543.6:n.324+472G>A | ||
| ENST00000586125.2:c.106+472G>A | ENSP00000467397.2:n.106+472G>A | |
| ENST00000588735.3:c.1171+472G>A MANE Select | ENSP00000466598.2:n.1171+472G>A | |
| ENST00000589701.2:n.85G>A | ||
| ENST00000591327.2:n.2797G>A | ||
| ENST00000591880.2:c.219G>A | ||
| ENST00000638281.1:c.1643G>A | ENSP00000491088.1:n.1643G>A | |
| ENST00000638304.1:c.90+472G>A | ||
| ENST00000638400.1:c.6+472G>A | ||
| ENST00000638488.1:n.584G>A | ||
| ENST00000638618.1:c.826+472G>A | ENSP00000492832.1:n.826+472G>A | |
| ENST00000639042.1:c.143+83G>A | ||
| ENST00000639277.1:c.1171+472G>A | ENSP00000492432.1:n.1171+472G>A | |
| ENST00000639369.1:c.21+472G>A | ||
| ENST00000639921.1:c.816G>A | ||
| ENST00000640552.1:n.1657G>A | ||
| ENST00000253408.9:c.1171+472G>A | ENSP00000253408.4:n.1171+472G>A | |
| ENST00000435360.6:c.1289G>A | ENSP00000403962.1:p.Arg430His | |
| ENST00000585543.5:n.324+472G>A | ||
| ENST00000586125.1:c.140G>A | ENSP00000467397.1:p.Arg47His | |
| ENST00000588640.5:n.551+472G>A | ||
| ENST00000588735.1:c.83-2027G>A | ENSP00000466598.1:n.83-2027G>A | |
| ENST00000591880.1:c.37+472G>A | ENSP00000467530.1:n.37+472G>A | |
| NM_001131019.2:c.1289G>A | NP_001124491.1:p.Arg430His | |
| NM_001242376.1:c.*326G>A | NP_001229305.1:n.*326G>A | |
| NM_002055.4:c.1171+472G>A | NP_002046.1:n.1171+472G>A | |
| NM_001363846.1:c.1289G>A | NP_001350775.1:p.Arg430His | |
| XM_024450690.1:c.1493G>A | XP_024306458.1:p.Arg498His | |
| XM_024450691.1:c.*326G>A | XP_024306459.1:n.*326G>A | |
| XM_024450692.1:c.1375+472G>A | XP_024306460.1:n.1375+472G>A | |
| XM_024450693.1:c.1493G>A | XP_024306461.1:p.Arg498His | |
| NM_002055.5:c.1171+472G>A MANE Select | NP_002046.1:n.1171+472G>A | |
| NM_001131019.3:c.1289G>A | NP_001124491.1:p.Arg430His | |
| NM_001242376.2:c.*326G>A | NP_001229305.1:n.*326G>A | |
| NM_001242376.3:c.*326G>A | NP_001229305.1:n.*326G>A | |
| NM_001363846.2:c.1289G>A | NP_001350775.1:p.Arg430His |