Linked Data
ClinVar Variation Id:
380193
dbSNP Id:
rs150562772
ExAC:
11:126145265 G / A
gnomAD v2:
11-126145265-G-A
gnomAD v4:
11-126275370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275370G>A , CM000673.2:g.126275370G>A | GRCh38 |
| NC_000011.9:g.126145265G>A , CM000673.1:g.126145265G>A | GRCh37 |
| NC_000011.8:g.125650475G>A | NCBI36 |
| NG_028029.1:g.11331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1158G>A | ||
| ENST00000532101.6:n.777G>A | ||
| ENST00000532125.2:c.672G>A | ENSP00000434178.2:p.Gln224= | |
| ENST00000533839.6:c.86-424G>A | ENSP00000509952.1:n.86-424G>A | |
| ENST00000534011.6:n.967G>A | ||
| ENST00000685484.1:c.675G>A | ENSP00000510622.1:p.Gln225= | |
| ENST00000685601.1:c.675G>A | ENSP00000510603.1:p.Gln225= | |
| ENST00000685765.1:c.675G>A | ENSP00000509991.1:p.Gln225= | |
| ENST00000685844.1:c.*212G>A | ENSP00000509820.1:n.*212G>A | |
| ENST00000685857.1:n.1414G>A | ||
| ENST00000686242.1:c.474G>A | ENSP00000508950.1:n.474G>A | |
| ENST00000686888.1:c.*242G>A | ENSP00000509619.1:n.*242G>A | |
| ENST00000687699.1:c.799G>A | ENSP00000508878.1:n.799G>A | |
| ENST00000687786.1:n.2111G>A | ||
| ENST00000688100.1:n.1596G>A | ||
| ENST00000688588.1:c.675G>A | ENSP00000510802.1:p.Gln225= | |
| ENST00000688927.1:n.2886G>A | ||
| ENST00000689283.1:c.*338G>A | ENSP00000509050.1:n.*338G>A | |
| ENST00000689477.1:c.*568G>A | ENSP00000508945.1:n.*568G>A | |
| ENST00000689765.1:c.*169-1G>A | ENSP00000509625.1:n.*169-1G>A | |
| ENST00000690512.1:c.*526G>A | ENSP00000509793.1:n.*526G>A | |
| ENST00000692039.1:c.*473G>A | ENSP00000508821.1:n.*473G>A | |
| ENST00000692336.1:c.699G>A | ENSP00000508540.1:p.Gln233= | |
| ENST00000693133.1:n.1155G>A | ||
| ENST00000263578.10:c.675G>A MANE Select | ENSP00000263578.5:p.Gln225= | |
| ENST00000263578.9:c.675G>A | ENSP00000263578.5:p.Gln225= | |
| ENST00000525083.5:n.395G>A | ||
| ENST00000525770.5:c.*307G>A | ENSP00000434739.1:n.*307G>A | |
| ENST00000527004.5:c.*19G>A | ENSP00000436374.1:n.*19G>A | |
| ENST00000530642.1:n.1457G>A | ||
| ENST00000532101.5:n.898G>A | ||
| ENST00000532125.1:c.633G>A | ENSP00000434178.1:p.Gln211= | |
| ENST00000533395.5:n.408G>A | ||
| ENST00000533839.5:n.238-424G>A | ||
| ENST00000534011.5:n.727G>A | ||
| ENST00000534315.5:n.987G>A | ||
| NM_017547.3:c.675G>A | NP_060017.1:p.Gln225= | |
| NR_037647.1:n.621G>A | ||
| NR_037648.1:n.861G>A | ||
| XM_006718879.2:c.165G>A | XP_006718942.1:p.Gln55= | |
| XM_006718880.2:c.42G>A | XP_006718943.1:p.Gln14= | |
| XM_006718881.2:c.42G>A | XP_006718944.1:p.Gln14= | |
| XM_011542895.1:c.165G>A | XP_011541197.1:p.Gln55= | |
| XM_011542896.1:c.165G>A | XP_011541198.1:p.Gln55= | |
| XM_006718879.3:c.165G>A | XP_006718942.1:p.Gln55= | |
| XM_006718881.3:c.42G>A | XP_006718944.1:p.Gln14= | |
| XM_011542895.2:c.165G>A | XP_011541197.1:p.Gln55= | |
| XM_011542896.2:c.165G>A | XP_011541198.1:p.Gln55= | |
| XM_017018000.2:c.675G>A | XP_016873489.1:p.Gln225= | |
| XM_017018001.1:c.165G>A | XP_016873490.1:p.Gln55= | |
| XM_017018002.1:c.165G>A | XP_016873491.1:p.Gln55= | |
| XM_017018003.2:c.42G>A | XP_016873492.1:p.Gln14= | |
| XM_017018004.1:c.42G>A | XP_016873493.1:p.Gln14= | |
| XM_017018005.1:c.42G>A | XP_016873494.1:p.Gln14= | |
| XM_017018006.2:c.42G>A | XP_016873495.1:p.Gln14= | |
| NM_017547.4:c.675G>A MANE Select | NP_060017.1:p.Gln225= | |
| NR_037647.2:n.507G>A | ||
| NR_037648.2:n.852G>A |