Linked Data
ClinVar Variation Id:
5
dbSNP Id:
rs267606829
ExAC:
11:126145284 C / T
gnomAD v2:
11-126145284-C-T
gnomAD v3:
11-126275389-C-T
gnomAD v4:
11-126275389-C-T
PubMed:
PMID:20818383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275389C>T , CM000673.2:g.126275389C>T | GRCh38 |
| NC_000011.9:g.126145284C>T , CM000673.1:g.126145284C>T | GRCh37 |
| NC_000011.8:g.125650494C>T | NCBI36 |
| NG_028029.1:g.11350C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1177C>T | ||
| ENST00000532101.6:n.796C>T | ||
| ENST00000532125.2:c.691C>T | ENSP00000434178.2:p.Gln231Ter | |
| ENST00000533839.6:c.86-405C>T | ENSP00000509952.1:n.86-405C>T | |
| ENST00000534011.6:n.986C>T | ||
| ENST00000685484.1:c.694C>T | ENSP00000510622.1:p.Gln232Ter | |
| ENST00000685601.1:c.694C>T | ENSP00000510603.1:p.Gln232Ter | |
| ENST00000685765.1:c.694C>T | ENSP00000509991.1:p.Gln232Ter | |
| ENST00000685844.1:c.*231C>T | ENSP00000509820.1:n.*231C>T | |
| ENST00000685857.1:n.1433C>T | ||
| ENST00000686242.1:c.493C>T | ENSP00000508950.1:n.493C>T | |
| ENST00000686888.1:c.*261C>T | ENSP00000509619.1:n.*261C>T | |
| ENST00000687699.1:c.818C>T | ENSP00000508878.1:n.818C>T | |
| ENST00000687786.1:n.2130C>T | ||
| ENST00000688100.1:n.1615C>T | ||
| ENST00000688588.1:c.694C>T | ENSP00000510802.1:p.Gln232Ter | |
| ENST00000688927.1:n.2905C>T | ||
| ENST00000689283.1:c.*357C>T | ENSP00000509050.1:n.*357C>T | |
| ENST00000689477.1:c.*587C>T | ENSP00000508945.1:n.*587C>T | |
| ENST00000689765.1:c.*187C>T | ENSP00000509625.1:n.*187C>T | |
| ENST00000690512.1:c.*545C>T | ENSP00000509793.1:n.*545C>T | |
| ENST00000692039.1:c.*492C>T | ENSP00000508821.1:n.*492C>T | |
| ENST00000692336.1:c.718C>T | ENSP00000508540.1:p.Gln240Ter | |
| ENST00000693133.1:n.1174C>T | ||
| ENST00000263578.10:c.694C>T MANE Select | ENSP00000263578.5:p.Gln232Ter | |
| ENST00000263578.9:c.694C>T | ENSP00000263578.5:p.Gln232Ter | |
| ENST00000525083.5:n.414C>T | ||
| ENST00000525770.5:c.*326C>T | ENSP00000434739.1:n.*326C>T | |
| ENST00000527004.5:c.*38C>T | ENSP00000436374.1:n.*38C>T | |
| ENST00000530642.1:n.1476C>T | ||
| ENST00000532101.5:n.917C>T | ||
| ENST00000532125.1:c.652C>T | ENSP00000434178.1:p.Gln218Ter | |
| ENST00000533395.5:n.427C>T | ||
| ENST00000533839.5:n.238-405C>T | ||
| ENST00000534011.5:n.746C>T | ||
| ENST00000534315.5:n.1006C>T | ||
| NM_017547.3:c.694C>T | NP_060017.1:p.Gln232Ter | |
| NR_037647.1:n.640C>T | ||
| NR_037648.1:n.880C>T | ||
| XM_006718879.2:c.184C>T | XP_006718942.1:p.Gln62Ter | |
| XM_006718880.2:c.61C>T | XP_006718943.1:p.Gln21Ter | |
| XM_006718881.2:c.61C>T | XP_006718944.1:p.Gln21Ter | |
| XM_011542895.1:c.184C>T | XP_011541197.1:p.Gln62Ter | |
| XM_011542896.1:c.184C>T | XP_011541198.1:p.Gln62Ter | |
| XM_006718879.3:c.184C>T | XP_006718942.1:p.Gln62Ter | |
| XM_006718881.3:c.61C>T | XP_006718944.1:p.Gln21Ter | |
| XM_011542895.2:c.184C>T | XP_011541197.1:p.Gln62Ter | |
| XM_011542896.2:c.184C>T | XP_011541198.1:p.Gln62Ter | |
| XM_017018000.2:c.694C>T | XP_016873489.1:p.Gln232Ter | |
| XM_017018001.1:c.184C>T | XP_016873490.1:p.Gln62Ter | |
| XM_017018002.1:c.184C>T | XP_016873491.1:p.Gln62Ter | |
| XM_017018003.2:c.61C>T | XP_016873492.1:p.Gln21Ter | |
| XM_017018004.1:c.61C>T | XP_016873493.1:p.Gln21Ter | |
| XM_017018005.1:c.61C>T | XP_016873494.1:p.Gln21Ter | |
| XM_017018006.2:c.61C>T | XP_016873495.1:p.Gln21Ter | |
| NM_017547.4:c.694C>T MANE Select | NP_060017.1:p.Gln232Ter | |
| NR_037647.2:n.526C>T | ||
| NR_037648.2:n.871C>T |