Linked Data
ClinVar Variation Id:
1417529
ClinVar RCV Id:
RCV001938434
dbSNP Id:
rs760417338
ExAC:
11:126141389 G / A
gnomAD v2:
11-126141389-G-A
gnomAD v3:
11-126271494-G-A
gnomAD v4:
11-126271494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271494G>A , CM000673.2:g.126271494G>A | GRCh38 |
| NC_000011.9:g.126141389G>A , CM000673.1:g.126141389G>A | GRCh37 |
| NC_000011.8:g.125646599G>A | NCBI36 |
| NG_028029.1:g.7455G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.321G>A | ||
| ENST00000532101.6:n.320G>A | ||
| ENST00000532125.2:c.143G>A | ENSP00000434178.2:p.Arg48Lys | |
| ENST00000533839.6:c.85+2203G>A | ENSP00000509952.1:n.85+2203G>A | |
| ENST00000534011.6:n.419G>A | ||
| ENST00000685484.1:c.143G>A | ENSP00000510622.1:p.Arg48Lys | |
| ENST00000685601.1:c.143G>A | ENSP00000510603.1:p.Arg48Lys | |
| ENST00000685765.1:c.143G>A | ENSP00000509991.1:p.Arg48Lys | |
| ENST00000685844.1:c.86-1475G>A | ENSP00000509820.1:n.86-1475G>A | |
| ENST00000685857.1:n.321G>A | ||
| ENST00000686242.1:c.86-1475G>A | ENSP00000508950.1:n.86-1475G>A | |
| ENST00000686888.1:c.143G>A | ENSP00000509619.1:p.Arg48Lys | |
| ENST00000687699.1:c.267G>A | ENSP00000508878.1:n.267G>A | |
| ENST00000687786.1:n.1476G>A | ||
| ENST00000688588.1:c.143G>A | ENSP00000510802.1:p.Arg48Lys | |
| ENST00000688927.1:n.321G>A | ||
| ENST00000689283.1:c.210-1475G>A | ENSP00000509050.1:n.210-1475G>A | |
| ENST00000689477.1:c.*36G>A | ENSP00000508945.1:n.*36G>A | |
| ENST00000689765.1:c.86-1475G>A | ENSP00000509625.1:n.86-1475G>A | |
| ENST00000690512.1:c.86-984G>A | ENSP00000509793.1:n.86-984G>A | |
| ENST00000692039.1:c.229G>A | ENSP00000508821.1:p.Gly77Ser | |
| ENST00000692336.1:c.143G>A | ENSP00000508540.1:p.Arg48Lys | |
| ENST00000693133.1:n.226-1475G>A | ||
| ENST00000263578.10:c.143G>A MANE Select | ENSP00000263578.5:p.Arg48Lys | |
| ENST00000263578.9:c.143G>A | ENSP00000263578.5:p.Arg48Lys | |
| ENST00000524751.5:n.223-1475G>A | ||
| ENST00000525083.5:n.122-1475G>A | ||
| ENST00000525770.5:c.86-1475G>A | ENSP00000434739.1:n.86-1475G>A | |
| ENST00000526366.5:n.101-225G>A | ||
| ENST00000526525.1:n.246-1475G>A | ||
| ENST00000527004.5:c.143G>A | ENSP00000436374.1:p.Arg48Lys | |
| ENST00000529802.1:n.193G>A | ||
| ENST00000532101.5:n.366G>A | ||
| ENST00000532125.1:c.101G>A | ENSP00000434178.1:p.Arg34Lys | |
| ENST00000533839.5:n.237+2203G>A | ||
| ENST00000534011.5:n.158-984G>A | ||
| ENST00000534315.5:n.550G>A | ||
| NM_017547.3:c.143G>A | NP_060017.1:p.Arg48Lys | |
| NR_037647.1:n.253-1475G>A | ||
| NR_037648.1:n.329G>A | ||
| XM_006718880.2:c.-396G>A | XP_006718943.1:n.-396G>A | |
| XM_006718881.2:c.-232-1475G>A | XP_006718944.1:n.-232-1475G>A | |
| XM_011542895.1:c.-368G>A | XP_011541197.1:n.-368G>A | |
| XM_011542896.1:c.-388G>A | XP_011541198.1:n.-388G>A | |
| XM_006718881.3:c.-232-1475G>A | XP_006718944.1:n.-232-1475G>A | |
| XM_011542895.2:c.-368G>A | XP_011541197.1:n.-368G>A | |
| XM_011542896.2:c.-388G>A | XP_011541198.1:n.-388G>A | |
| XM_017018000.2:c.143G>A | XP_016873489.1:p.Arg48Lys | |
| XM_017018001.1:c.-388G>A | XP_016873490.1:n.-388G>A | |
| XM_017018002.1:c.-224-1475G>A | XP_016873491.1:n.-224-1475G>A | |
| XM_017018003.2:c.-396G>A | XP_016873492.1:n.-396G>A | |
| XM_017018004.1:c.-396G>A | XP_016873493.1:n.-396G>A | |
| XM_017018005.1:c.-594G>A | XP_016873494.1:n.-594G>A | |
| XM_017018006.2:c.-396G>A | XP_016873495.1:n.-396G>A | |
| NM_017547.4:c.143G>A MANE Select | NP_060017.1:p.Arg48Lys | |
| NR_037647.2:n.139-1475G>A | ||
| NR_037648.2:n.320G>A |