Linked Data
ClinVar Variation Id:
412159
dbSNP Id:
rs369465519
ExAC:
14:95562517 C / A
gnomAD v2:
14-95562517-C-A
gnomAD v3:
14-95096180-C-A
gnomAD v4:
14-95096180-C-A
ERepo:
CA7330808/MONDO:0017288/024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95096180C>A , CM000676.2:g.95096180C>A | GRCh38 |
| NC_000014.8:g.95562517C>A , CM000676.1:g.95562517C>A | GRCh37 |
| NC_000014.7:g.94632270C>A | NCBI36 |
| NG_016311.1:g.66243G>T , LRG_492:g.66243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.4740G>T | ENSP00000433926.2:p.Gln1580His | |
| ENST00000531162.7:c.4740G>T | ENSP00000433060.3:p.Gln1580His | |
| ENST00000674628.2:c.4740G>T | ENSP00000502730.2:p.Gln1580His | |
| ENST00000675540.2:c.*1390G>T | ENSP00000501988.2:n.*1390G>T | |
| ENST00000696733.1:c.4740G>T | ENSP00000512838.1:p.Gln1580His | |
| ENST00000696734.1:c.4740G>T | ENSP00000512839.1:p.Gln1580His | |
| ENST00000696735.1:n.1727G>T | ||
| ENST00000696736.1:c.4740G>T | ENSP00000512840.1:p.Gln1580His | |
| ENST00000696737.1:c.4740G>T | ENSP00000512841.1:p.Gln1580His | |
| ENST00000696920.1:n.5003G>T | ||
| ENST00000696921.1:n.5846G>T | ||
| ENST00000696922.1:n.5149G>T | ||
| ENST00000696923.1:c.4740G>T | ENSP00000512976.1:p.Gln1580His | |
| ENST00000696924.1:c.4740G>T | ENSP00000512977.1:p.Gln1580His | |
| ENST00000696925.1:n.5149G>T | ||
| ENST00000343455.8:c.4740G>T MANE Select | ENSP00000343745.3:p.Gln1580His | |
| ENST00000393063.6:c.4740G>T | ENSP00000376783.1:p.Gln1580His | |
| ENST00000526495.6:c.4740G>T | ENSP00000437256.1:p.Gln1580His | |
| ENST00000532939.3:c.4740G>T | ENSP00000452556.2:p.Gln1580His | |
| ENST00000556045.6:c.4740G>T | ENSP00000451041.2:p.Gln1580His | |
| ENST00000675540.1:c.2485G>T | ENSP00000501988.1:n.2485G>T | |
| ENST00000675995.1:c.*3056G>T | ENSP00000502591.1:n.*3056G>T | |
| ENST00000343455.7:c.4740G>T | ENSP00000343745.3:p.Gln1580His | |
| ENST00000393063.5:c.4740G>T | ENSP00000376783.1:p.Gln1580His | |
| ENST00000526495.5:c.4740G>T | ENSP00000437256.1:p.Gln1580His | |
| ENST00000527414.5:c.4740G>T | ENSP00000435681.1:p.Gln1580His | |
| ENST00000532939.2:c.775G>T | ||
| ENST00000541352.5:c.4740G>T | ENSP00000444719.1:p.Gln1580His | |
| ENST00000556045.5:c.1434G>T | ENSP00000451041.1:p.Gln478His | |
| NM_001195573.1:c.4740G>T | NP_001182502.1:p.Gln1580His | |
| NM_001271282.2:c.4740G>T | NP_001258211.1:p.Gln1580His | |
| NM_001291628.1:c.4740G>T | NP_001278557.1:p.Gln1580His | |
| NM_030621.4:c.4740G>T | NP_085124.2:p.Gln1580His | |
| NM_177438.2:c.4740G>T , LRG_492t1:c.4740G>T | NP_803187.1:p.Gln1580His | |
| XM_011536599.1:c.4740G>T | XP_011534901.1:p.Gln1580His | |
| XM_011536600.1:c.4740G>T | XP_011534902.1:p.Gln1580His | |
| XM_011536601.1:c.4740G>T | XP_011534903.1:p.Gln1580His | |
| XM_011536602.1:c.4740G>T | XP_011534904.1:p.Gln1580His | |
| XM_011536603.1:c.4740G>T | XP_011534905.1:p.Gln1580His | |
| XM_011536604.1:c.4335G>T | XP_011534906.1:p.Gln1445His | |
| XM_011536605.1:c.3261G>T | XP_011534907.1:p.Gln1087His | |
| XM_011536599.2:c.4740G>T | XP_011534901.1:p.Gln1580His | |
| XM_011536600.3:c.4740G>T | XP_011534902.1:p.Gln1580His | |
| XM_011536601.3:c.4740G>T | XP_011534903.1:p.Gln1580His | |
| XM_011536602.3:c.4740G>T | XP_011534904.1:p.Gln1580His | |
| XM_011536604.2:c.4335G>T | XP_011534906.1:p.Gln1445His | |
| XM_011536605.2:c.3261G>T | XP_011534907.1:p.Gln1087His | |
| XM_017021120.2:c.4740G>T | XP_016876609.1:p.Gln1580His | |
| XM_017021121.2:c.4740G>T | XP_016876610.1:p.Gln1580His | |
| XM_017021122.2:c.4335G>T | XP_016876611.1:p.Gln1445His | |
| XM_017021123.2:c.4335G>T | XP_016876612.1:p.Gln1445His | |
| NM_001271282.3:c.4740G>T | NP_001258211.1:p.Gln1580His | |
| NM_001291628.2:c.4740G>T | NP_001278557.1:p.Gln1580His | |
| NM_177438.3:c.4740G>T MANE Select | NP_803187.1:p.Gln1580His | |
| NM_001395677.1:c.4740G>T | NP_001382606.1:p.Gln1580His | |
| NM_001395678.1:c.4740G>T | NP_001382607.1:p.Gln1580His | |
| NM_001395679.1:c.4740G>T | NP_001382608.1:p.Gln1580His | |
| NM_001395680.1:c.4740G>T | NP_001382609.1:p.Gln1580His | |
| NM_001395682.1:c.4740G>T | NP_001382611.1:p.Gln1580His | |
| NM_001395683.1:c.4740G>T | NP_001382612.1:p.Gln1580His | |
| NM_001395684.1:c.4740G>T | NP_001382613.1:p.Gln1580His | |
| NM_001395685.1:c.4740G>T | NP_001382614.1:p.Gln1580His | |
| NM_001395686.1:c.4458G>T | NP_001382615.1:p.Gln1486His | |
| NM_001395687.1:c.4335G>T | NP_001382616.1:p.Gln1445His | |
| NM_001395688.1:c.4335G>T | NP_001382617.1:p.Gln1445His | |
| NM_001395689.1:c.4335G>T | NP_001382618.1:p.Gln1445His | |
| NM_001395690.1:c.4335G>T | NP_001382619.1:p.Gln1445His | |
| NM_001395691.1:c.4173G>T | NP_001382620.1:p.Gln1391His | |
| NM_001395692.1:c.4740G>T | NP_001382621.1:p.Gln1580His | |
| NM_001395693.1:c.4740G>T | NP_001382622.1:p.Gln1580His | |
| NM_001395694.1:c.4740G>T | NP_001382623.1:p.Gln1580His | |
| NM_001395695.1:c.4740G>T | NP_001382624.1:p.Gln1580His | |
| NM_001395696.1:c.4335G>T | NP_001382625.1:p.Gln1445His | |
| NM_001395697.1:c.3057G>T | NP_001382626.1:p.Gln1019His | |
| NR_172715.1:n.5158G>T | ||
| NR_172716.1:n.5342G>T | ||
| NR_172717.1:n.5252G>T | ||
| NR_172718.1:n.5175G>T | ||
| NR_172719.1:n.5008G>T | ||
| NR_172720.1:n.5085G>T |