Linked Data
dbSNP Id:
rs545703077
ExAC:
11:126145323 C / T
gnomAD v2:
11-126145323-C-T
gnomAD v3:
11-126275428-C-T
gnomAD v4:
11-126275428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275428C>T , CM000673.2:g.126275428C>T | GRCh38 |
| NC_000011.9:g.126145323C>T , CM000673.1:g.126145323C>T | GRCh37 |
| NC_000011.8:g.125650533C>T | NCBI36 |
| NG_028029.1:g.11389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1216C>T | ||
| ENST00000532101.6:n.835C>T | ||
| ENST00000532125.2:c.730C>T | ENSP00000434178.2:p.Arg244Cys | |
| ENST00000533839.6:c.86-366C>T | ENSP00000509952.1:n.86-366C>T | |
| ENST00000534011.6:n.1025C>T | ||
| ENST00000685484.1:c.733C>T | ENSP00000510622.1:p.Arg245Cys | |
| ENST00000685601.1:c.733C>T | ENSP00000510603.1:p.Arg245Cys | |
| ENST00000685765.1:c.733C>T | ENSP00000509991.1:p.Arg245Cys | |
| ENST00000685844.1:c.*270C>T | ENSP00000509820.1:n.*270C>T | |
| ENST00000685857.1:n.1472C>T | ||
| ENST00000686242.1:c.532C>T | ENSP00000508950.1:n.532C>T | |
| ENST00000686888.1:c.*300C>T | ENSP00000509619.1:n.*300C>T | |
| ENST00000687699.1:c.857C>T | ENSP00000508878.1:n.857C>T | |
| ENST00000687786.1:n.2169C>T | ||
| ENST00000688100.1:n.1654C>T | ||
| ENST00000688588.1:c.733C>T | ENSP00000510802.1:p.Arg245Cys | |
| ENST00000688927.1:n.2944C>T | ||
| ENST00000689283.1:c.*396C>T | ENSP00000509050.1:n.*396C>T | |
| ENST00000689477.1:c.*626C>T | ENSP00000508945.1:n.*626C>T | |
| ENST00000689765.1:c.*226C>T | ENSP00000509625.1:n.*226C>T | |
| ENST00000690512.1:c.*584C>T | ENSP00000509793.1:n.*584C>T | |
| ENST00000692039.1:c.*531C>T | ENSP00000508821.1:n.*531C>T | |
| ENST00000692336.1:c.757C>T | ENSP00000508540.1:p.Arg253Cys | |
| ENST00000693133.1:n.1213C>T | ||
| ENST00000263578.10:c.733C>T MANE Select | ENSP00000263578.5:p.Arg245Cys | |
| ENST00000263578.9:c.733C>T | ENSP00000263578.5:p.Arg245Cys | |
| ENST00000525083.5:n.453C>T | ||
| ENST00000525770.5:c.*365C>T | ENSP00000434739.1:n.*365C>T | |
| ENST00000527004.5:c.*77C>T | ENSP00000436374.1:n.*77C>T | |
| ENST00000530642.1:n.1515C>T | ||
| ENST00000532101.5:n.956C>T | ||
| ENST00000532125.1:c.691C>T | ENSP00000434178.1:p.Arg231Cys | |
| ENST00000533395.5:n.466C>T | ||
| ENST00000533839.5:n.238-366C>T | ||
| ENST00000534011.5:n.785C>T | ||
| ENST00000534315.5:n.1045C>T | ||
| NM_017547.3:c.733C>T | NP_060017.1:p.Arg245Cys | |
| NR_037647.1:n.679C>T | ||
| NR_037648.1:n.919C>T | ||
| XM_006718879.2:c.223C>T | XP_006718942.1:p.Arg75Cys | |
| XM_006718880.2:c.100C>T | XP_006718943.1:p.Arg34Cys | |
| XM_006718881.2:c.100C>T | XP_006718944.1:p.Arg34Cys | |
| XM_011542895.1:c.223C>T | XP_011541197.1:p.Arg75Cys | |
| XM_011542896.1:c.223C>T | XP_011541198.1:p.Arg75Cys | |
| XM_006718879.3:c.223C>T | XP_006718942.1:p.Arg75Cys | |
| XM_006718881.3:c.100C>T | XP_006718944.1:p.Arg34Cys | |
| XM_011542895.2:c.223C>T | XP_011541197.1:p.Arg75Cys | |
| XM_011542896.2:c.223C>T | XP_011541198.1:p.Arg75Cys | |
| XM_017018000.2:c.733C>T | XP_016873489.1:p.Arg245Cys | |
| XM_017018001.1:c.223C>T | XP_016873490.1:p.Arg75Cys | |
| XM_017018002.1:c.223C>T | XP_016873491.1:p.Arg75Cys | |
| XM_017018003.2:c.100C>T | XP_016873492.1:p.Arg34Cys | |
| XM_017018004.1:c.100C>T | XP_016873493.1:p.Arg34Cys | |
| XM_017018005.1:c.100C>T | XP_016873494.1:p.Arg34Cys | |
| XM_017018006.2:c.100C>T | XP_016873495.1:p.Arg34Cys | |
| NM_017547.4:c.733C>T MANE Select | NP_060017.1:p.Arg245Cys | |
| NR_037647.2:n.565C>T | ||
| NR_037648.2:n.910C>T |