Linked Data
ClinVar Variation Id:
158582
dbSNP Id:
rs587783626
COSMIC:
COSM53005
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809370G>A , CM000669.2:g.148809370G>A | GRCh38 |
| NC_000007.13:g.148506462G>A , CM000669.1:g.148506462G>A | GRCh37 |
| NC_000007.12:g.148137395G>A | NCBI36 |
| NG_032043.1:g.79980C>T , LRG_531:g.79980C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3950C>T | ||
| ENST00000682317.1:c.*1112C>T | ENSP00000508286.1:n.*1112C>T | |
| ENST00000683292.1:c.*946C>T | ENSP00000507503.1:n.*946C>T | |
| ENST00000683293.1:n.3769C>T | ||
| ENST00000683744.1:c.*1112C>T | ENSP00000506949.1:n.*1112C>T | |
| ENST00000684300.1:c.*1112C>T | ENSP00000508407.1:n.*1112C>T | |
| ENST00000684400.1:n.3883C>T | ||
| ENST00000684436.1:n.2366C>T | ||
| ENST00000684510.1:n.2428C>T | ||
| ENST00000320356.7:c.2050C>T MANE Select | ENSP00000320147.2:p.Arg684Cys | |
| ENST00000320356.6:c.2050C>T | ENSP00000320147.2:p.Arg684Cys | |
| ENST00000350995.6:c.1918C>T | ENSP00000223193.2:p.Arg640Cys | |
| ENST00000460911.5:c.2035C>T | ENSP00000419711.1:p.Arg679Cys | |
| ENST00000476773.5:c.1882C>T | ENSP00000419050.1:p.Arg628Cys | |
| ENST00000478654.5:c.1882C>T | ENSP00000417062.1:p.Arg628Cys | |
| ENST00000483967.5:c.2008C>T | ENSP00000419856.1:p.Arg670Cys | |
| ENST00000492143.5:c.*2040C>T | ENSP00000417377.1:n.*2040C>T | |
| NM_001203247.1:c.2035C>T | NP_001190176.1:p.Arg679Cys | |
| NM_001203248.1:c.2008C>T | NP_001190177.1:p.Arg670Cys | |
| NM_001203249.1:c.1882C>T | NP_001190178.1:p.Arg628Cys | |
| NM_004456.4:c.2050C>T , LRG_531t1:c.2050C>T | NP_004447.2:p.Arg684Cys | |
| NM_152998.2:c.1918C>T | NP_694543.1:p.Arg640Cys | |
| XM_005249962.3:c.2059C>T | XP_005250019.1:p.Arg687Cys | |
| XM_005249963.3:c.2032C>T | XP_005250020.1:p.Arg678Cys | |
| XM_005249964.3:c.1906C>T | XP_005250021.1:p.Arg636Cys | |
| XM_011515883.1:c.2074C>T | XP_011514185.1:p.Arg692Cys | |
| XM_011515884.1:c.2050C>T | XP_011514186.1:p.Arg684Cys | |
| XM_011515885.1:c.2047C>T | XP_011514187.1:p.Arg683Cys | |
| XM_011515886.1:c.2026C>T | XP_011514188.1:p.Arg676Cys | |
| XM_011515887.1:c.2023C>T | XP_011514189.1:p.Arg675Cys | |
| XM_011515888.1:c.2023C>T | XP_011514190.1:p.Arg675Cys | |
| XM_011515889.1:c.1984C>T | XP_011514191.1:p.Arg662Cys | |
| XM_011515890.1:c.1957C>T | XP_011514192.1:p.Arg653Cys | |
| XM_011515891.1:c.1951C>T | XP_011514193.1:p.Arg651Cys | |
| XM_011515892.1:c.1948C>T | XP_011514194.1:p.Arg650Cys | |
| XM_011515893.1:c.1942C>T | XP_011514195.1:p.Arg648Cys | |
| XM_011515894.1:c.1933C>T | XP_011514196.1:p.Arg645Cys | |
| XM_011515895.1:c.1930C>T | XP_011514197.1:p.Arg644Cys | |
| XM_011515896.1:c.1816C>T | XP_011514198.1:p.Arg606Cys | |
| XM_011515897.1:c.1723C>T | XP_011514199.1:p.Arg575Cys | |
| XM_011515898.1:c.1723C>T | XP_011514200.1:p.Arg575Cys | |
| XR_928101.1:n.515+4285G>A | ||
| XR_928102.1:n.722+4285G>A | ||
| XM_005249962.4:c.2059C>T | XP_005250019.1:p.Arg687Cys | |
| XM_005249963.4:c.2032C>T | XP_005250020.1:p.Arg678Cys | |
| XM_005249964.4:c.1906C>T | XP_005250021.1:p.Arg636Cys | |
| XM_011515883.2:c.2074C>T | XP_011514185.1:p.Arg692Cys | |
| XM_011515884.2:c.2050C>T | XP_011514186.1:p.Arg684Cys | |
| XM_011515885.2:c.2047C>T | XP_011514187.1:p.Arg683Cys | |
| XM_011515886.2:c.2026C>T | XP_011514188.1:p.Arg676Cys | |
| XM_011515887.3:c.2023C>T | XP_011514189.1:p.Arg675Cys | |
| XM_011515888.2:c.2023C>T | XP_011514190.1:p.Arg675Cys | |
| XM_011515889.2:c.1984C>T | XP_011514191.1:p.Arg662Cys | |
| XM_011515890.2:c.1957C>T | XP_011514192.1:p.Arg653Cys | |
| XM_011515891.3:c.1951C>T | XP_011514193.1:p.Arg651Cys | |
| XM_011515892.2:c.1948C>T | XP_011514194.1:p.Arg650Cys | |
| XM_011515893.2:c.1942C>T | XP_011514195.1:p.Arg648Cys | |
| XM_011515894.2:c.1933C>T | XP_011514196.1:p.Arg645Cys | |
| XM_011515895.2:c.1930C>T | XP_011514197.1:p.Arg644Cys | |
| XM_011515896.2:c.1816C>T | XP_011514198.1:p.Arg606Cys | |
| XM_011515897.2:c.1723C>T | XP_011514199.1:p.Arg575Cys | |
| XM_011515898.2:c.1723C>T | XP_011514200.1:p.Arg575Cys | |
| XM_017011817.2:c.2074C>T | XP_016867306.1:p.Arg692Cys | |
| XM_017011818.1:c.2011C>T | XP_016867307.1:p.Arg671Cys | |
| XM_017011819.1:c.1933C>T | XP_016867308.1:p.Arg645Cys | |
| XM_017011820.2:c.1906C>T | XP_016867309.1:p.Arg636Cys | |
| XM_017011821.1:c.1708C>T | XP_016867310.1:p.Arg570Cys | |
| XM_024446680.1:c.1936C>T | XP_024302448.1:p.Arg646Cys | |
| XR_001744581.1:n.4424C>T | ||
| XR_002956413.1:n.5080C>T | ||
| XR_002956414.1:n.5540C>T | ||
| NM_001203247.2:c.2035C>T | NP_001190176.1:p.Arg679Cys | |
| NM_001203248.2:c.2008C>T | NP_001190177.1:p.Arg670Cys | |
| NM_001203249.2:c.1882C>T | NP_001190178.1:p.Arg628Cys | |
| NM_004456.5:c.2050C>T MANE Select | NP_004447.2:p.Arg684Cys | |
| NM_152998.3:c.1918C>T | NP_694543.1:p.Arg640Cys |