Linked Data
dbSNP Id:
rs762456138
ExAC:
11:126144835 A / G
gnomAD v2:
11-126144835-A-G
gnomAD v4:
11-126274940-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274940A>G , CM000673.2:g.126274940A>G | GRCh38 |
| NC_000011.9:g.126144835A>G , CM000673.1:g.126144835A>G | GRCh37 |
| NC_000011.8:g.125650045A>G | NCBI36 |
| NG_028029.1:g.10901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.728A>G | ||
| ENST00000532101.6:n.734-387A>G | ||
| ENST00000532125.2:c.547A>G | ENSP00000434178.2:p.Lys183Glu | |
| ENST00000533839.6:c.86-854A>G | ENSP00000509952.1:n.86-854A>G | |
| ENST00000534011.6:n.842A>G | ||
| ENST00000685484.1:c.550A>G | ENSP00000510622.1:p.Lys184Glu | |
| ENST00000685601.1:c.550A>G | ENSP00000510603.1:p.Lys184Glu | |
| ENST00000685765.1:c.550A>G | ENSP00000509991.1:p.Lys184Glu | |
| ENST00000685844.1:c.*169-387A>G | ENSP00000509820.1:n.*169-387A>G | |
| ENST00000685857.1:n.984A>G | ||
| ENST00000686242.1:c.349A>G | ENSP00000508950.1:n.349A>G | |
| ENST00000686888.1:c.*117A>G | ENSP00000509619.1:n.*117A>G | |
| ENST00000687699.1:c.674A>G | ENSP00000508878.1:n.674A>G | |
| ENST00000687786.1:n.2068-387A>G | ||
| ENST00000688100.1:n.1471A>G | ||
| ENST00000688588.1:c.550A>G | ENSP00000510802.1:p.Lys184Glu | |
| ENST00000688927.1:n.2456A>G | ||
| ENST00000689283.1:c.*213A>G | ENSP00000509050.1:n.*213A>G | |
| ENST00000689477.1:c.*443A>G | ENSP00000508945.1:n.*443A>G | |
| ENST00000689765.1:c.*169-431A>G | ENSP00000509625.1:n.*169-431A>G | |
| ENST00000690512.1:c.*401A>G | ENSP00000509793.1:n.*401A>G | |
| ENST00000692039.1:c.*348A>G | ENSP00000508821.1:n.*348A>G | |
| ENST00000692336.1:c.574A>G | ENSP00000508540.1:p.Lys192Glu | |
| ENST00000693133.1:n.725A>G | ||
| ENST00000263578.10:c.550A>G MANE Select | ENSP00000263578.5:p.Lys184Glu | |
| ENST00000263578.9:c.550A>G | ENSP00000263578.5:p.Lys184Glu | |
| ENST00000524751.5:n.486A>G | ||
| ENST00000525083.5:n.352-387A>G | ||
| ENST00000525770.5:c.*182A>G | ENSP00000434739.1:n.*182A>G | |
| ENST00000526366.5:n.481A>G | ||
| ENST00000527004.5:c.534-387A>G | ENSP00000436374.1:n.534-387A>G | |
| ENST00000527875.1:n.380A>G | ||
| ENST00000530642.1:n.1027A>G | ||
| ENST00000532101.5:n.773A>G | ||
| ENST00000532125.1:c.508A>G | ENSP00000434178.1:p.Lys170Glu | |
| ENST00000533395.5:n.365-387A>G | ||
| ENST00000533839.5:n.238-854A>G | ||
| ENST00000534011.5:n.602A>G | ||
| ENST00000534315.5:n.944-387A>G | ||
| NM_017547.3:c.550A>G | NP_060017.1:p.Lys184Glu | |
| NR_037647.1:n.496A>G | ||
| NR_037648.1:n.736A>G | ||
| XM_006718879.2:c.40A>G | XP_006718942.1:p.Lys14Glu | |
| XM_006718880.2:c.-2-387A>G | XP_006718943.1:n.-2-387A>G | |
| XM_006718881.2:c.-2-387A>G | XP_006718944.1:n.-2-387A>G | |
| XM_011542895.1:c.40A>G | XP_011541197.1:p.Lys14Glu | |
| XM_011542896.1:c.40A>G | XP_011541198.1:p.Lys14Glu | |
| XM_006718879.3:c.40A>G | XP_006718942.1:p.Lys14Glu | |
| XM_006718881.3:c.-2-387A>G | XP_006718944.1:n.-2-387A>G | |
| XM_011542895.2:c.40A>G | XP_011541197.1:p.Lys14Glu | |
| XM_011542896.2:c.40A>G | XP_011541198.1:p.Lys14Glu | |
| XM_017018000.2:c.550A>G | XP_016873489.1:p.Lys184Glu | |
| XM_017018001.1:c.40A>G | XP_016873490.1:p.Lys14Glu | |
| XM_017018002.1:c.40A>G | XP_016873491.1:p.Lys14Glu | |
| XM_017018003.2:c.-2-387A>G | XP_016873492.1:n.-2-387A>G | |
| XM_017018004.1:c.-2-387A>G | XP_016873493.1:n.-2-387A>G | |
| XM_017018005.1:c.-2-387A>G | XP_016873494.1:n.-2-387A>G | |
| XM_017018006.2:c.-2-387A>G | XP_016873495.1:n.-2-387A>G | |
| NM_017547.4:c.550A>G MANE Select | NP_060017.1:p.Lys184Glu | |
| NR_037647.2:n.382A>G | ||
| NR_037648.2:n.727A>G |