Linked Data
ClinVar Variation Id:
30199
ClinVar RCV Id:
RCV000023118
dbSNP Id:
rs193921147
COSMIC:
COSM53040
PubMed:
PMID:22177091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809340G>A , CM000669.2:g.148809340G>A | GRCh38 |
| NC_000007.13:g.148506432G>A , CM000669.1:g.148506432G>A | GRCh37 |
| NC_000007.12:g.148137365G>A | NCBI36 |
| NG_032043.1:g.80010C>T , LRG_531:g.80010C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3980C>T | ||
| ENST00000682317.1:c.*1142C>T | ENSP00000508286.1:n.*1142C>T | |
| ENST00000683292.1:c.*976C>T | ENSP00000507503.1:n.*976C>T | |
| ENST00000683293.1:n.3799C>T | ||
| ENST00000683744.1:c.*1142C>T | ENSP00000506949.1:n.*1142C>T | |
| ENST00000684300.1:c.*1142C>T | ENSP00000508407.1:n.*1142C>T | |
| ENST00000684400.1:n.3913C>T | ||
| ENST00000684436.1:n.2396C>T | ||
| ENST00000684510.1:n.2458C>T | ||
| ENST00000320356.7:c.2080C>T MANE Select | ENSP00000320147.2:p.His694Tyr | |
| ENST00000320356.6:c.2080C>T | ENSP00000320147.2:p.His694Tyr | |
| ENST00000350995.6:c.1948C>T | ENSP00000223193.2:p.His650Tyr | |
| ENST00000460911.5:c.2065C>T | ENSP00000419711.1:p.His689Tyr | |
| ENST00000476773.5:c.1912C>T | ENSP00000419050.1:p.His638Tyr | |
| ENST00000478654.5:c.1912C>T | ENSP00000417062.1:p.His638Tyr | |
| ENST00000483967.5:c.2038C>T | ENSP00000419856.1:p.His680Tyr | |
| ENST00000492143.5:c.*2070C>T | ENSP00000417377.1:n.*2070C>T | |
| NM_001203247.1:c.2065C>T | NP_001190176.1:p.His689Tyr | |
| NM_001203248.1:c.2038C>T | NP_001190177.1:p.His680Tyr | |
| NM_001203249.1:c.1912C>T | NP_001190178.1:p.His638Tyr | |
| NM_004456.4:c.2080C>T , LRG_531t1:c.2080C>T | NP_004447.2:p.His694Tyr | |
| NM_152998.2:c.1948C>T | NP_694543.1:p.His650Tyr | |
| XM_005249962.3:c.2089C>T | XP_005250019.1:p.His697Tyr | |
| XM_005249963.3:c.2062C>T | XP_005250020.1:p.His688Tyr | |
| XM_005249964.3:c.1936C>T | XP_005250021.1:p.His646Tyr | |
| XM_011515883.1:c.2104C>T | XP_011514185.1:p.His702Tyr | |
| XM_011515884.1:c.2080C>T | XP_011514186.1:p.His694Tyr | |
| XM_011515885.1:c.2077C>T | XP_011514187.1:p.His693Tyr | |
| XM_011515886.1:c.2056C>T | XP_011514188.1:p.His686Tyr | |
| XM_011515887.1:c.2053C>T | XP_011514189.1:p.His685Tyr | |
| XM_011515888.1:c.2053C>T | XP_011514190.1:p.His685Tyr | |
| XM_011515889.1:c.2014C>T | XP_011514191.1:p.His672Tyr | |
| XM_011515890.1:c.1987C>T | XP_011514192.1:p.His663Tyr | |
| XM_011515891.1:c.1981C>T | XP_011514193.1:p.His661Tyr | |
| XM_011515892.1:c.1978C>T | XP_011514194.1:p.His660Tyr | |
| XM_011515893.1:c.1972C>T | XP_011514195.1:p.His658Tyr | |
| XM_011515894.1:c.1963C>T | XP_011514196.1:p.His655Tyr | |
| XM_011515895.1:c.1960C>T | XP_011514197.1:p.His654Tyr | |
| XM_011515896.1:c.1846C>T | XP_011514198.1:p.His616Tyr | |
| XM_011515897.1:c.1753C>T | XP_011514199.1:p.His585Tyr | |
| XM_011515898.1:c.1753C>T | XP_011514200.1:p.His585Tyr | |
| XR_928101.1:n.515+4255G>A | ||
| XR_928102.1:n.722+4255G>A | ||
| XM_005249962.4:c.2089C>T | XP_005250019.1:p.His697Tyr | |
| XM_005249963.4:c.2062C>T | XP_005250020.1:p.His688Tyr | |
| XM_005249964.4:c.1936C>T | XP_005250021.1:p.His646Tyr | |
| XM_011515883.2:c.2104C>T | XP_011514185.1:p.His702Tyr | |
| XM_011515884.2:c.2080C>T | XP_011514186.1:p.His694Tyr | |
| XM_011515885.2:c.2077C>T | XP_011514187.1:p.His693Tyr | |
| XM_011515886.2:c.2056C>T | XP_011514188.1:p.His686Tyr | |
| XM_011515887.3:c.2053C>T | XP_011514189.1:p.His685Tyr | |
| XM_011515888.2:c.2053C>T | XP_011514190.1:p.His685Tyr | |
| XM_011515889.2:c.2014C>T | XP_011514191.1:p.His672Tyr | |
| XM_011515890.2:c.1987C>T | XP_011514192.1:p.His663Tyr | |
| XM_011515891.3:c.1981C>T | XP_011514193.1:p.His661Tyr | |
| XM_011515892.2:c.1978C>T | XP_011514194.1:p.His660Tyr | |
| XM_011515893.2:c.1972C>T | XP_011514195.1:p.His658Tyr | |
| XM_011515894.2:c.1963C>T | XP_011514196.1:p.His655Tyr | |
| XM_011515895.2:c.1960C>T | XP_011514197.1:p.His654Tyr | |
| XM_011515896.2:c.1846C>T | XP_011514198.1:p.His616Tyr | |
| XM_011515897.2:c.1753C>T | XP_011514199.1:p.His585Tyr | |
| XM_011515898.2:c.1753C>T | XP_011514200.1:p.His585Tyr | |
| XM_017011817.2:c.2104C>T | XP_016867306.1:p.His702Tyr | |
| XM_017011818.1:c.2041C>T | XP_016867307.1:p.His681Tyr | |
| XM_017011819.1:c.1963C>T | XP_016867308.1:p.His655Tyr | |
| XM_017011820.2:c.1936C>T | XP_016867309.1:p.His646Tyr | |
| XM_017011821.1:c.1738C>T | XP_016867310.1:p.His580Tyr | |
| XM_024446680.1:c.1966C>T | XP_024302448.1:p.His656Tyr | |
| XR_001744581.1:n.4454C>T | ||
| XR_002956413.1:n.5110C>T | ||
| XR_002956414.1:n.5570C>T | ||
| NM_001203247.2:c.2065C>T | NP_001190176.1:p.His689Tyr | |
| NM_001203248.2:c.2038C>T | NP_001190177.1:p.His680Tyr | |
| NM_001203249.2:c.1912C>T | NP_001190178.1:p.His638Tyr | |
| NM_004456.5:c.2080C>T MANE Select | NP_004447.2:p.His694Tyr | |
| NM_152998.3:c.1948C>T | NP_694543.1:p.His650Tyr |