Revel Score:
ENST00000478654
0.901
ENST00000320356 (MANE Select)
0.901
ENST00000460911
0.901
ENST00000350995
0.901
ENST00000541220
0.901
ENST00000476773
0.901
ENST00000483967
0.901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811635T>C , CM000669.2:g.148811635T>C | GRCh38 |
| NC_000007.13:g.148508727T>C , CM000669.1:g.148508727T>C | GRCh37 |
| NC_000007.12:g.148139660T>C | NCBI36 |
| NG_032043.1:g.77715A>G , LRG_531:g.77715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3837A>G | ||
| ENST00000682317.1:c.*999A>G | ENSP00000508286.1:n.*999A>G | |
| ENST00000683292.1:c.*833A>G | ENSP00000507503.1:n.*833A>G | |
| ENST00000683293.1:n.3656A>G | ||
| ENST00000683744.1:c.*999A>G | ENSP00000506949.1:n.*999A>G | |
| ENST00000684300.1:c.*999A>G | ENSP00000508407.1:n.*999A>G | |
| ENST00000684400.1:n.2828A>G | ||
| ENST00000684436.1:n.2253A>G | ||
| ENST00000684510.1:n.2315A>G | ||
| ENST00000320356.7:c.1937A>G MANE Select | ENSP00000320147.2:p.Tyr646Cys | |
| ENST00000320356.6:c.1937A>G | ENSP00000320147.2:p.Tyr646Cys | |
| ENST00000350995.6:c.1805A>G | ENSP00000223193.2:p.Tyr602Cys | |
| ENST00000460911.5:c.1922A>G | ENSP00000419711.1:p.Tyr641Cys | |
| ENST00000469631.1:n.189A>G | ||
| ENST00000476773.5:c.1769A>G | ENSP00000419050.1:p.Tyr590Cys | |
| ENST00000478654.5:c.1769A>G | ENSP00000417062.1:p.Tyr590Cys | |
| ENST00000483967.5:c.1895A>G | ENSP00000419856.1:p.Tyr632Cys | |
| ENST00000492143.5:c.*1927A>G | ENSP00000417377.1:n.*1927A>G | |
| NM_001203247.1:c.1922A>G | NP_001190176.1:p.Tyr641Cys | |
| NM_001203248.1:c.1895A>G | NP_001190177.1:p.Tyr632Cys | |
| NM_001203249.1:c.1769A>G | NP_001190178.1:p.Tyr590Cys | |
| NM_004456.4:c.1937A>G , LRG_531t1:c.1937A>G | NP_004447.2:p.Tyr646Cys | |
| NM_152998.2:c.1805A>G | NP_694543.1:p.Tyr602Cys | |
| XM_005249962.3:c.1946A>G | XP_005250019.1:p.Tyr649Cys | |
| XM_005249963.3:c.1919A>G | XP_005250020.1:p.Tyr640Cys | |
| XM_005249964.3:c.1793A>G | XP_005250021.1:p.Tyr598Cys | |
| XM_011515883.1:c.1961A>G | XP_011514185.1:p.Tyr654Cys | |
| XM_011515884.1:c.1937A>G | XP_011514186.1:p.Tyr646Cys | |
| XM_011515885.1:c.1934A>G | XP_011514187.1:p.Tyr645Cys | |
| XM_011515886.1:c.1913A>G | XP_011514188.1:p.Tyr638Cys | |
| XM_011515887.1:c.1910A>G | XP_011514189.1:p.Tyr637Cys | |
| XM_011515888.1:c.1910A>G | XP_011514190.1:p.Tyr637Cys | |
| XM_011515889.1:c.1871A>G | XP_011514191.1:p.Tyr624Cys | |
| XM_011515890.1:c.1844A>G | XP_011514192.1:p.Tyr615Cys | |
| XM_011515891.1:c.1838A>G | XP_011514193.1:p.Tyr613Cys | |
| XM_011515892.1:c.1835A>G | XP_011514194.1:p.Tyr612Cys | |
| XM_011515893.1:c.1829A>G | XP_011514195.1:p.Tyr610Cys | |
| XM_011515894.1:c.1820A>G | XP_011514196.1:p.Tyr607Cys | |
| XM_011515895.1:c.1817A>G | XP_011514197.1:p.Tyr606Cys | |
| XM_011515896.1:c.1703A>G | XP_011514198.1:p.Tyr568Cys | |
| XM_011515897.1:c.1610A>G | XP_011514199.1:p.Tyr537Cys | |
| XM_011515898.1:c.1610A>G | XP_011514200.1:p.Tyr537Cys | |
| XR_928101.1:n.515+6550T>C | ||
| XR_928102.1:n.722+6550T>C | ||
| XM_005249962.4:c.1946A>G | XP_005250019.1:p.Tyr649Cys | |
| XM_005249963.4:c.1919A>G | XP_005250020.1:p.Tyr640Cys | |
| XM_005249964.4:c.1793A>G | XP_005250021.1:p.Tyr598Cys | |
| XM_011515883.2:c.1961A>G | XP_011514185.1:p.Tyr654Cys | |
| XM_011515884.2:c.1937A>G | XP_011514186.1:p.Tyr646Cys | |
| XM_011515885.2:c.1934A>G | XP_011514187.1:p.Tyr645Cys | |
| XM_011515886.2:c.1913A>G | XP_011514188.1:p.Tyr638Cys | |
| XM_011515887.3:c.1910A>G | XP_011514189.1:p.Tyr637Cys | |
| XM_011515888.2:c.1910A>G | XP_011514190.1:p.Tyr637Cys | |
| XM_011515889.2:c.1871A>G | XP_011514191.1:p.Tyr624Cys | |
| XM_011515890.2:c.1844A>G | XP_011514192.1:p.Tyr615Cys | |
| XM_011515891.3:c.1838A>G | XP_011514193.1:p.Tyr613Cys | |
| XM_011515892.2:c.1835A>G | XP_011514194.1:p.Tyr612Cys | |
| XM_011515893.2:c.1829A>G | XP_011514195.1:p.Tyr610Cys | |
| XM_011515894.2:c.1820A>G | XP_011514196.1:p.Tyr607Cys | |
| XM_011515895.2:c.1817A>G | XP_011514197.1:p.Tyr606Cys | |
| XM_011515896.2:c.1703A>G | XP_011514198.1:p.Tyr568Cys | |
| XM_011515897.2:c.1610A>G | XP_011514199.1:p.Tyr537Cys | |
| XM_011515898.2:c.1610A>G | XP_011514200.1:p.Tyr537Cys | |
| XM_017011817.2:c.1961A>G | XP_016867306.1:p.Tyr654Cys | |
| XM_017011818.1:c.1898A>G | XP_016867307.1:p.Tyr633Cys | |
| XM_017011819.1:c.1820A>G | XP_016867308.1:p.Tyr607Cys | |
| XM_017011820.2:c.1793A>G | XP_016867309.1:p.Tyr598Cys | |
| XM_017011821.1:c.1595A>G | XP_016867310.1:p.Tyr532Cys | |
| XM_024446680.1:c.1823A>G | XP_024302448.1:p.Tyr608Cys | |
| XR_001744581.1:n.4311A>G | ||
| XR_002956413.1:n.4967A>G | ||
| XR_002956414.1:n.5427A>G | ||
| NM_001203247.2:c.1922A>G | NP_001190176.1:p.Tyr641Cys | |
| NM_001203248.2:c.1895A>G | NP_001190177.1:p.Tyr632Cys | |
| NM_001203249.2:c.1769A>G | NP_001190178.1:p.Tyr590Cys | |
| NM_004456.5:c.1937A>G MANE Select | NP_004447.2:p.Tyr646Cys | |
| NM_152998.3:c.1805A>G | NP_694543.1:p.Tyr602Cys |