Linked Data
ClinVar Variation Id:
50506
ClinVar RCV Id:
RCV000043539
dbSNP Id:
rs587776970
ExAC:
11:3845255 C / T
gnomAD v2:
11-3845255-C-T
gnomAD v4:
11-3824025-C-T
PubMed:
PMID:23561847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.3824025C>T , CM000673.2:g.3824025C>T | GRCh38 |
| NC_000011.9:g.3845255C>T , CM000673.1:g.3845255C>T | GRCh37 |
| NC_000011.8:g.3801831C>T | NCBI36 |
| NG_051812.1:g.31302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278243.9:c.491C>T MANE Select | ENSP00000278243.4:p.Thr164Ile | |
| ENST00000278243.8:c.491C>T | ENSP00000278243.4:p.Thr164Ile | |
| ENST00000300730.10:c.479C>T | ENSP00000300730.6:p.Thr160Ile | |
| ENST00000396986.6:c.479C>T | ENSP00000380183.2:p.Thr160Ile | |
| ENST00000396991.6:c.362C>T | ENSP00000380188.3:p.Thr121Ile | |
| ENST00000396993.8:c.-161C>T | ENSP00000380190.6:n.-161C>T | |
| ENST00000459679.5:c.308C>T | ENSP00000433748.2:p.Thr103Ile | |
| ENST00000463452.6:c.308C>T | ENSP00000435223.1:p.Thr103Ile | |
| ENST00000464229.5:c.-161C>T | ENSP00000434772.2:n.-161C>T | |
| ENST00000464261.5:c.308C>T | ENSP00000434088.2:p.Thr103Ile | |
| ENST00000464441.5:c.-50-245C>T | ENSP00000435799.3:n.-50-245C>T | |
| ENST00000464590.1:n.514C>T | ||
| ENST00000464906.6:c.491C>T | ENSP00000434631.2:p.Thr164Ile | |
| ENST00000465237.6:n.240C>T | ||
| ENST00000465307.6:c.318C>T | ENSP00000434401.1:p.His106= | |
| ENST00000469307.4:c.308C>T | ENSP00000434507.1:p.Thr103Ile | |
| ENST00000475884.5:c.166-245C>T | ENSP00000437203.2:n.166-245C>T | |
| ENST00000477358.6:c.166-245C>T | ENSP00000432123.2:n.166-245C>T | |
| ENST00000478773.5:n.411C>T | ||
| ENST00000479072.5:c.-161C>T | ENSP00000435338.1:n.-161C>T | |
| ENST00000483829.5:n.533C>T | ||
| ENST00000485602.5:n.240-245C>T | ||
| ENST00000487112.5:n.219C>T | ||
| ENST00000489571.5:c.*350C>T | ENSP00000482118.1:n.*350C>T | |
| ENST00000490830.5:c.-161C>T | ENSP00000435703.2:n.-161C>T | |
| ENST00000493547.6:c.308C>T | ENSP00000431851.1:p.Thr103Ile | |
| ENST00000495026.5:n.372C>T | ||
| ENST00000496834.6:c.-161C>T | ENSP00000432721.1:n.-161C>T | |
| ENST00000525937.1:n.254C>T | ||
| ENST00000527810.1:n.406C>T | ||
| ENST00000528216.5:c.*222C>T | ENSP00000432215.1:n.*222C>T | |
| ENST00000529944.1:n.392C>T | ||
| ENST00000532017.5:c.*222C>T | ENSP00000481391.1:n.*222C>T | |
| ENST00000532523.5:c.231C>T | ENSP00000433377.2:p.His77= | |
| ENST00000532535.5:n.529C>T | ||
| ENST00000534498.1:n.284C>T | ||
| NM_001145438.2:c.479C>T | NP_001138910.1:p.Thr160Ile | |
| NM_001256235.1:c.362C>T | NP_001243164.1:p.Thr121Ile | |
| NM_001256236.1:c.662C>T | NP_001243165.1:p.Thr221Ile | |
| NM_001256237.1:c.479C>T | NP_001243166.1:p.Thr160Ile | |
| NM_001256238.1:c.308C>T | NP_001243167.1:p.Thr103Ile | |
| NM_001256239.1:c.308C>T | NP_001243168.1:p.Thr103Ile | |
| NM_001256240.1:c.308C>T | NP_001243169.1:p.Thr103Ile | |
| NM_001283038.1:c.479C>T | NP_001269967.1:p.Thr160Ile | |
| NM_001283039.1:c.432C>T | NP_001269968.1:p.His144= | |
| NM_001283040.1:c.162-245C>T | NP_001269969.1:n.162-245C>T | |
| NM_014489.3:c.491C>T | NP_055304.1:p.Thr164Ile | |
| NR_027016.2:n.259C>T | ||
| NR_027017.2:n.567C>T | ||
| NR_027018.2:n.456C>T | ||
| NR_045923.1:n.329C>T | ||
| NR_045925.1:n.362-245C>T | ||
| NR_045926.1:n.362-245C>T | ||
| NR_045927.1:n.329C>T | ||
| NR_045929.1:n.387C>T | ||
| NR_104270.1:n.329C>T | ||
| NR_104271.1:n.589C>T | ||
| NR_104272.1:n.259C>T | ||
| XM_006718181.2:c.494C>T | XP_006718244.1:p.Thr165Ile | |
| XM_006718183.2:c.428C>T | XP_006718246.1:p.Thr143Ile | |
| XM_006718185.2:c.389C>T | XP_006718248.1:p.Thr130Ile | |
| XM_006718186.1:c.362C>T | XP_006718249.1:p.Thr121Ile | |
| XM_006718190.2:c.308C>T | XP_006718253.1:p.Thr103Ile | |
| XM_006718191.2:c.308C>T | XP_006718254.1:p.Thr103Ile | |
| XM_006718192.1:c.318C>T | XP_006718255.1:p.His106= | |
| XM_006718193.2:c.318C>T | XP_006718256.1:p.His106= | |
| XM_011519990.1:c.491C>T | XP_011518292.1:p.Thr164Ile | |
| XM_011519991.1:c.491C>T | XP_011518293.1:p.Thr164Ile | |
| XM_011519992.1:c.659C>T | XP_011518294.1:p.Thr220Ile | |
| XM_011519993.1:c.491C>T | XP_011518295.1:p.Thr164Ile | |
| XM_011519994.1:c.491C>T | XP_011518296.1:p.Thr164Ile | |
| XM_011519995.1:c.629C>T | XP_011518297.1:p.Thr210Ile | |
| XM_011519996.1:c.611C>T | XP_011518298.1:p.Thr204Ile | |
| XM_011519997.1:c.593C>T | XP_011518299.1:p.Thr198Ile | |
| XM_011519998.1:c.593C>T | XP_011518300.1:p.Thr198Ile | |
| XM_011519999.1:c.593C>T | XP_011518301.1:p.Thr198Ile | |
| XM_011520000.1:c.572C>T | XP_011518302.1:p.Thr191Ile | |
| XM_011520001.1:c.308C>T | XP_011518303.1:p.Thr103Ile | |
| XM_011520002.1:c.308C>T | XP_011518304.1:p.Thr103Ile | |
| XM_011520003.1:c.491C>T | XP_011518305.1:p.Thr164Ile | |
| XM_011520004.1:c.491C>T | XP_011518306.1:p.Thr164Ile | |
| XM_011520005.1:c.362C>T | XP_011518307.1:p.Thr121Ile | |
| XM_011520006.1:c.318C>T | XP_011518308.1:p.His106= | |
| XM_011520007.1:c.318C>T | XP_011518309.1:p.His106= | |
| XM_011520008.1:c.318C>T | XP_011518310.1:p.His106= | |
| NM_001346397.1:c.461C>T | NP_001333326.1:p.Thr154Ile | |
| NM_001346398.1:c.308C>T | NP_001333327.1:p.Thr103Ile | |
| NM_001346399.1:c.318C>T | NP_001333328.1:p.His106= | |
| NM_001346400.1:c.308C>T | NP_001333329.1:p.Thr103Ile | |
| NM_001346401.1:c.318C>T | NP_001333330.1:p.His106= | |
| NM_001346402.1:c.428C>T | NP_001333331.1:p.Thr143Ile | |
| NM_001346403.1:c.491C>T | NP_001333332.1:p.Thr164Ile | |
| NM_001346404.1:c.308C>T | NP_001333333.1:p.Thr103Ile | |
| NM_001346405.1:c.308C>T | NP_001333334.1:p.Thr103Ile | |
| NR_027017.3:n.707C>T | ||
| NR_144427.1:n.329C>T | ||
| NR_144428.1:n.519C>T | ||
| NR_144429.1:n.259C>T | ||
| NR_144430.1:n.117-245C>T | ||
| XM_006718181.3:c.494C>T | XP_006718244.1:p.Thr165Ile | |
| XM_006718186.2:c.362C>T | XP_006718249.1:p.Thr121Ile | |
| XM_006718190.3:c.308C>T | XP_006718253.1:p.Thr103Ile | |
| XM_006718191.3:c.308C>T | XP_006718254.1:p.Thr103Ile | |
| XM_011519990.2:c.719C>T | XP_011518292.2:p.Thr240Ile | |
| XM_011519991.2:c.719C>T | XP_011518293.2:p.Thr240Ile | |
| XM_011519993.2:c.719C>T | XP_011518295.2:p.Thr240Ile | |
| XM_011519994.2:c.719C>T | XP_011518296.2:p.Thr240Ile | |
| XM_011519998.2:c.593C>T | XP_011518300.1:p.Thr198Ile | |
| XM_011520003.2:c.491C>T | XP_011518305.1:p.Thr164Ile | |
| XM_011520004.2:c.491C>T | XP_011518306.1:p.Thr164Ile | |
| XM_011520006.2:c.318C>T | XP_011518308.1:p.His106= | |
| XM_011520007.2:c.318C>T | XP_011518309.1:p.His106= | |
| XM_017017558.1:c.446C>T | XP_016873047.1:p.Thr149Ile | |
| XM_017017559.1:c.471C>T | XP_016873048.1:p.His157= | |
| XM_017017560.1:c.471C>T | XP_016873049.1:p.His157= | |
| XM_024448442.1:c.494C>T | XP_024304210.1:p.Thr165Ile | |
| XM_024448443.1:c.362C>T | XP_024304211.1:p.Thr121Ile | |
| XM_024448444.1:c.362C>T | XP_024304212.1:p.Thr121Ile | |
| XM_024448445.1:c.308C>T | XP_024304213.1:p.Thr103Ile | |
| XM_024448446.1:c.318C>T | XP_024304214.1:p.His106= | |
| NM_001256239.2:c.308C>T | NP_001243168.1:p.Thr103Ile | |
| NM_001256240.2:c.308C>T | NP_001243169.1:p.Thr103Ile | |
| NM_001346397.2:c.461C>T | NP_001333326.1:p.Thr154Ile | |
| NM_001346398.2:c.308C>T | NP_001333327.1:p.Thr103Ile | |
| NM_001346399.2:c.318C>T | NP_001333328.1:p.His106= | |
| NM_001346400.2:c.308C>T | NP_001333329.1:p.Thr103Ile | |
| NM_001346401.2:c.318C>T | NP_001333330.1:p.His106= | |
| NM_001346402.2:c.428C>T | NP_001333331.1:p.Thr143Ile | |
| NM_014489.4:c.491C>T MANE Select | NP_055304.1:p.Thr164Ile | |
| NR_027016.3:n.235C>T | ||
| NR_027017.4:n.628C>T | ||
| NR_045923.2:n.250C>T | ||
| NR_045925.2:n.283-245C>T | ||
| NR_045926.2:n.283-245C>T | ||
| NR_045927.2:n.250C>T | ||
| NR_045929.2:n.363C>T | ||
| NR_104270.2:n.250C>T | ||
| NR_104271.2:n.510C>T | ||
| NR_104272.2:n.235C>T | ||
| NR_144427.2:n.250C>T | ||
| NR_144428.2:n.495C>T | ||
| NR_144429.2:n.235C>T | ||
| NR_144430.2:n.93-245C>T |