COSMIC:
dbSNP:
Revel Score:
ENST00000478654
0.909
ENST00000320356 (MANE Select)
0.909
ENST00000460911
0.909
ENST00000350995
0.909
ENST00000541220
0.909
ENST00000476773
0.909
ENST00000483967
0.909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811636A>C , CM000669.2:g.148811636A>C | GRCh38 |
| NC_000007.13:g.148508728A>C , CM000669.1:g.148508728A>C | GRCh37 |
| NC_000007.12:g.148139661A>C | NCBI36 |
| NG_032043.1:g.77714T>G , LRG_531:g.77714T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3836T>G | ||
| ENST00000682317.1:c.*998T>G | ENSP00000508286.1:n.*998T>G | |
| ENST00000683292.1:c.*832T>G | ENSP00000507503.1:n.*832T>G | |
| ENST00000683293.1:n.3655T>G | ||
| ENST00000683744.1:c.*998T>G | ENSP00000506949.1:n.*998T>G | |
| ENST00000684300.1:c.*998T>G | ENSP00000508407.1:n.*998T>G | |
| ENST00000684400.1:n.2827T>G | ||
| ENST00000684436.1:n.2252T>G | ||
| ENST00000684510.1:n.2314T>G | ||
| ENST00000320356.7:c.1936T>G MANE Select | ENSP00000320147.2:p.Tyr646Asp | |
| ENST00000320356.6:c.1936T>G | ENSP00000320147.2:p.Tyr646Asp | |
| ENST00000350995.6:c.1804T>G | ENSP00000223193.2:p.Tyr602Asp | |
| ENST00000460911.5:c.1921T>G | ENSP00000419711.1:p.Tyr641Asp | |
| ENST00000469631.1:n.188T>G | ||
| ENST00000476773.5:c.1768T>G | ENSP00000419050.1:p.Tyr590Asp | |
| ENST00000478654.5:c.1768T>G | ENSP00000417062.1:p.Tyr590Asp | |
| ENST00000483967.5:c.1894T>G | ENSP00000419856.1:p.Tyr632Asp | |
| ENST00000492143.5:c.*1926T>G | ENSP00000417377.1:n.*1926T>G | |
| NM_001203247.1:c.1921T>G | NP_001190176.1:p.Tyr641Asp | |
| NM_001203248.1:c.1894T>G | NP_001190177.1:p.Tyr632Asp | |
| NM_001203249.1:c.1768T>G | NP_001190178.1:p.Tyr590Asp | |
| NM_004456.4:c.1936T>G , LRG_531t1:c.1936T>G | NP_004447.2:p.Tyr646Asp | |
| NM_152998.2:c.1804T>G | NP_694543.1:p.Tyr602Asp | |
| XM_005249962.3:c.1945T>G | XP_005250019.1:p.Tyr649Asp | |
| XM_005249963.3:c.1918T>G | XP_005250020.1:p.Tyr640Asp | |
| XM_005249964.3:c.1792T>G | XP_005250021.1:p.Tyr598Asp | |
| XM_011515883.1:c.1960T>G | XP_011514185.1:p.Tyr654Asp | |
| XM_011515884.1:c.1936T>G | XP_011514186.1:p.Tyr646Asp | |
| XM_011515885.1:c.1933T>G | XP_011514187.1:p.Tyr645Asp | |
| XM_011515886.1:c.1912T>G | XP_011514188.1:p.Tyr638Asp | |
| XM_011515887.1:c.1909T>G | XP_011514189.1:p.Tyr637Asp | |
| XM_011515888.1:c.1909T>G | XP_011514190.1:p.Tyr637Asp | |
| XM_011515889.1:c.1870T>G | XP_011514191.1:p.Tyr624Asp | |
| XM_011515890.1:c.1843T>G | XP_011514192.1:p.Tyr615Asp | |
| XM_011515891.1:c.1837T>G | XP_011514193.1:p.Tyr613Asp | |
| XM_011515892.1:c.1834T>G | XP_011514194.1:p.Tyr612Asp | |
| XM_011515893.1:c.1828T>G | XP_011514195.1:p.Tyr610Asp | |
| XM_011515894.1:c.1819T>G | XP_011514196.1:p.Tyr607Asp | |
| XM_011515895.1:c.1816T>G | XP_011514197.1:p.Tyr606Asp | |
| XM_011515896.1:c.1702T>G | XP_011514198.1:p.Tyr568Asp | |
| XM_011515897.1:c.1609T>G | XP_011514199.1:p.Tyr537Asp | |
| XM_011515898.1:c.1609T>G | XP_011514200.1:p.Tyr537Asp | |
| XR_928101.1:n.515+6551A>C | ||
| XR_928102.1:n.722+6551A>C | ||
| XM_005249962.4:c.1945T>G | XP_005250019.1:p.Tyr649Asp | |
| XM_005249963.4:c.1918T>G | XP_005250020.1:p.Tyr640Asp | |
| XM_005249964.4:c.1792T>G | XP_005250021.1:p.Tyr598Asp | |
| XM_011515883.2:c.1960T>G | XP_011514185.1:p.Tyr654Asp | |
| XM_011515884.2:c.1936T>G | XP_011514186.1:p.Tyr646Asp | |
| XM_011515885.2:c.1933T>G | XP_011514187.1:p.Tyr645Asp | |
| XM_011515886.2:c.1912T>G | XP_011514188.1:p.Tyr638Asp | |
| XM_011515887.3:c.1909T>G | XP_011514189.1:p.Tyr637Asp | |
| XM_011515888.2:c.1909T>G | XP_011514190.1:p.Tyr637Asp | |
| XM_011515889.2:c.1870T>G | XP_011514191.1:p.Tyr624Asp | |
| XM_011515890.2:c.1843T>G | XP_011514192.1:p.Tyr615Asp | |
| XM_011515891.3:c.1837T>G | XP_011514193.1:p.Tyr613Asp | |
| XM_011515892.2:c.1834T>G | XP_011514194.1:p.Tyr612Asp | |
| XM_011515893.2:c.1828T>G | XP_011514195.1:p.Tyr610Asp | |
| XM_011515894.2:c.1819T>G | XP_011514196.1:p.Tyr607Asp | |
| XM_011515895.2:c.1816T>G | XP_011514197.1:p.Tyr606Asp | |
| XM_011515896.2:c.1702T>G | XP_011514198.1:p.Tyr568Asp | |
| XM_011515897.2:c.1609T>G | XP_011514199.1:p.Tyr537Asp | |
| XM_011515898.2:c.1609T>G | XP_011514200.1:p.Tyr537Asp | |
| XM_017011817.2:c.1960T>G | XP_016867306.1:p.Tyr654Asp | |
| XM_017011818.1:c.1897T>G | XP_016867307.1:p.Tyr633Asp | |
| XM_017011819.1:c.1819T>G | XP_016867308.1:p.Tyr607Asp | |
| XM_017011820.2:c.1792T>G | XP_016867309.1:p.Tyr598Asp | |
| XM_017011821.1:c.1594T>G | XP_016867310.1:p.Tyr532Asp | |
| XM_024446680.1:c.1822T>G | XP_024302448.1:p.Tyr608Asp | |
| XR_001744581.1:n.4310T>G | ||
| XR_002956413.1:n.4966T>G | ||
| XR_002956414.1:n.5426T>G | ||
| NM_001203247.2:c.1921T>G | NP_001190176.1:p.Tyr641Asp | |
| NM_001203248.2:c.1894T>G | NP_001190177.1:p.Tyr632Asp | |
| NM_001203249.2:c.1768T>G | NP_001190178.1:p.Tyr590Asp | |
| NM_004456.5:c.1936T>G MANE Select | NP_004447.2:p.Tyr646Asp | |
| NM_152998.3:c.1804T>G | NP_694543.1:p.Tyr602Asp |