Linked Data
dbSNP Id:
rs36109211
ExAC:
11:126145281 G / A
gnomAD v2:
11-126145281-G-A
gnomAD v3:
11-126275386-G-A
gnomAD v4:
11-126275386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275386G>A , CM000673.2:g.126275386G>A | GRCh38 |
| NC_000011.9:g.126145281G>A , CM000673.1:g.126145281G>A | GRCh37 |
| NC_000011.8:g.125650491G>A | NCBI36 |
| NG_028029.1:g.11347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1174G>A | ||
| ENST00000532101.6:n.793G>A | ||
| ENST00000532125.2:c.688G>A | ENSP00000434178.2:p.Val230Ile | |
| ENST00000533839.6:c.86-408G>A | ENSP00000509952.1:n.86-408G>A | |
| ENST00000534011.6:n.983G>A | ||
| ENST00000685484.1:c.691G>A | ENSP00000510622.1:p.Val231Ile | |
| ENST00000685601.1:c.691G>A | ENSP00000510603.1:p.Val231Ile | |
| ENST00000685765.1:c.691G>A | ENSP00000509991.1:p.Val231Ile | |
| ENST00000685844.1:c.*228G>A | ENSP00000509820.1:n.*228G>A | |
| ENST00000685857.1:n.1430G>A | ||
| ENST00000686242.1:c.490G>A | ENSP00000508950.1:n.490G>A | |
| ENST00000686888.1:c.*258G>A | ENSP00000509619.1:n.*258G>A | |
| ENST00000687699.1:c.815G>A | ENSP00000508878.1:n.815G>A | |
| ENST00000687786.1:n.2127G>A | ||
| ENST00000688100.1:n.1612G>A | ||
| ENST00000688588.1:c.691G>A | ENSP00000510802.1:p.Val231Ile | |
| ENST00000688927.1:n.2902G>A | ||
| ENST00000689283.1:c.*354G>A | ENSP00000509050.1:n.*354G>A | |
| ENST00000689477.1:c.*584G>A | ENSP00000508945.1:n.*584G>A | |
| ENST00000689765.1:c.*184G>A | ENSP00000509625.1:n.*184G>A | |
| ENST00000690512.1:c.*542G>A | ENSP00000509793.1:n.*542G>A | |
| ENST00000692039.1:c.*489G>A | ENSP00000508821.1:n.*489G>A | |
| ENST00000692336.1:c.715G>A | ENSP00000508540.1:p.Val239Ile | |
| ENST00000693133.1:n.1171G>A | ||
| ENST00000263578.10:c.691G>A MANE Select | ENSP00000263578.5:p.Val231Ile | |
| ENST00000263578.9:c.691G>A | ENSP00000263578.5:p.Val231Ile | |
| ENST00000525083.5:n.411G>A | ||
| ENST00000525770.5:c.*323G>A | ENSP00000434739.1:n.*323G>A | |
| ENST00000527004.5:c.*35G>A | ENSP00000436374.1:n.*35G>A | |
| ENST00000530642.1:n.1473G>A | ||
| ENST00000532101.5:n.914G>A | ||
| ENST00000532125.1:c.649G>A | ENSP00000434178.1:p.Val217Ile | |
| ENST00000533395.5:n.424G>A | ||
| ENST00000533839.5:n.238-408G>A | ||
| ENST00000534011.5:n.743G>A | ||
| ENST00000534315.5:n.1003G>A | ||
| NM_017547.3:c.691G>A | NP_060017.1:p.Val231Ile | |
| NR_037647.1:n.637G>A | ||
| NR_037648.1:n.877G>A | ||
| XM_006718879.2:c.181G>A | XP_006718942.1:p.Val61Ile | |
| XM_006718880.2:c.58G>A | XP_006718943.1:p.Val20Ile | |
| XM_006718881.2:c.58G>A | XP_006718944.1:p.Val20Ile | |
| XM_011542895.1:c.181G>A | XP_011541197.1:p.Val61Ile | |
| XM_011542896.1:c.181G>A | XP_011541198.1:p.Val61Ile | |
| XM_006718879.3:c.181G>A | XP_006718942.1:p.Val61Ile | |
| XM_006718881.3:c.58G>A | XP_006718944.1:p.Val20Ile | |
| XM_011542895.2:c.181G>A | XP_011541197.1:p.Val61Ile | |
| XM_011542896.2:c.181G>A | XP_011541198.1:p.Val61Ile | |
| XM_017018000.2:c.691G>A | XP_016873489.1:p.Val231Ile | |
| XM_017018001.1:c.181G>A | XP_016873490.1:p.Val61Ile | |
| XM_017018002.1:c.181G>A | XP_016873491.1:p.Val61Ile | |
| XM_017018003.2:c.58G>A | XP_016873492.1:p.Val20Ile | |
| XM_017018004.1:c.58G>A | XP_016873493.1:p.Val20Ile | |
| XM_017018005.1:c.58G>A | XP_016873494.1:p.Val20Ile | |
| XM_017018006.2:c.58G>A | XP_016873495.1:p.Val20Ile | |
| NM_017547.4:c.691G>A MANE Select | NP_060017.1:p.Val231Ile | |
| NR_037647.2:n.523G>A | ||
| NR_037648.2:n.868G>A |