Linked Data
ClinVar Variation Id:
456253
dbSNP Id:
rs142763060
ExAC:
14:45642364 G / A
gnomAD v2:
14-45642364-G-A
gnomAD v3:
14-45173161-G-A
gnomAD v4:
14-45173161-G-A
COSMIC:
COSM4050903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45173161G>A , CM000676.2:g.45173161G>A | GRCh38 |
| NC_000014.8:g.45642364G>A , CM000676.1:g.45642364G>A | GRCh37 |
| NC_000014.7:g.44712114G>A | NCBI36 |
| NG_007417.1:g.42229G>A , LRG_502:g.42229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.479G>A | ENSP00000450632.2:p.Arg160His | |
| ENST00000556250.6:c.2060G>A | ENSP00000452033.2:p.Arg687His | |
| ENST00000696641.1:c.2108G>A | ENSP00000512774.1:p.Arg703His | |
| ENST00000696642.1:c.*1078G>A | ENSP00000512775.1:n.*1078G>A | |
| ENST00000696646.1:c.*1078G>A | ENSP00000512777.1:n.*1078G>A | |
| ENST00000696647.1:c.2267G>A | ENSP00000512778.1:p.Arg756His | |
| ENST00000696648.1:c.*292G>A | ENSP00000512779.1:n.*292G>A | |
| ENST00000696649.1:c.2161-1910G>A | ENSP00000512780.1:n.2161-1910G>A | |
| ENST00000696650.1:n.2215G>A | ||
| ENST00000696658.1:n.2817G>A | ||
| ENST00000696659.1:c.265G>A | ||
| ENST00000696663.1:c.1084G>A | ||
| ENST00000696664.1:c.1084G>A | ||
| ENST00000696675.1:c.2267G>A | ENSP00000512799.1:p.Arg756His | |
| ENST00000696683.1:c.1084G>A | ||
| ENST00000696684.1:c.1084G>A | ||
| ENST00000696685.1:c.1084G>A | ||
| ENST00000267430.10:c.2267G>A MANE Select | ENSP00000267430.5:p.Arg756His | |
| ENST00000267430.9:c.2267G>A | ENSP00000267430.5:p.Arg756His | |
| ENST00000542564.6:c.2189G>A | ENSP00000442493.2:p.Arg730His | |
| ENST00000556250.5:c.815G>A | ENSP00000452033.1:p.Arg272His | |
| NM_001308133.1:c.2189G>A | NP_001295062.1:p.Arg730His | |
| NM_020937.2:c.2267G>A , LRG_502t1:c.2267G>A | NP_065988.1:p.Arg756His | |
| NM_020937.3:c.2267G>A | NP_065988.1:p.Arg756His | |
| XM_011537034.1:c.2267G>A | XP_011535336.1:p.Arg756His | |
| XM_011537035.1:c.2189G>A | XP_011535337.1:p.Arg730His | |
| XM_011537036.1:c.2267G>A | XP_011535338.1:p.Arg756His | |
| XM_011537037.1:c.281G>A | XP_011535339.1:p.Arg94His | |
| XM_011537034.2:c.2267G>A | XP_011535336.1:p.Arg756His | |
| XM_011537035.3:c.2189G>A | XP_011535337.1:p.Arg730His | |
| XM_011537037.3:c.281G>A | XP_011535339.1:p.Arg94His | |
| XM_017021523.1:c.2267G>A | XP_016877012.1:p.Arg756His | |
| XM_017021524.2:c.1304G>A | XP_016877013.1:p.Arg435His | |
| XM_017021525.2:c.1082G>A | XP_016877014.1:p.Arg361His | |
| XM_017021526.2:c.1082G>A | XP_016877015.1:p.Arg361His | |
| XM_017021527.1:c.1082G>A | XP_016877016.1:p.Arg361His | |
| XR_001750470.1:n.2359G>A | ||
| XR_001750471.2:n.2359G>A | ||
| XR_001750472.1:n.2359G>A | ||
| NM_020937.4:c.2267G>A MANE Select | NP_065988.1:p.Arg756His | |
| NM_001308133.2:c.2189G>A | NP_001295062.1:p.Arg730His |