ClinVar Variation:
dbSNP:
Revel Score:
ENST00000478654
0.848
ENST00000320356 (MANE Select)
0.848
ENST00000460911
0.848
ENST00000350995
0.848
ENST00000541220
0.848
ENST00000476773
0.848
ENST00000483967
0.848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811650T>G , CM000669.2:g.148811650T>G | GRCh38 |
| NC_000007.13:g.148508742T>G , CM000669.1:g.148508742T>G | GRCh37 |
| NC_000007.12:g.148139675T>G | NCBI36 |
| NG_032043.1:g.77700A>C , LRG_531:g.77700A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3822A>C | ||
| ENST00000682317.1:c.*984A>C | ENSP00000508286.1:n.*984A>C | |
| ENST00000683292.1:c.*818A>C | ENSP00000507503.1:n.*818A>C | |
| ENST00000683293.1:n.3641A>C | ||
| ENST00000683744.1:c.*984A>C | ENSP00000506949.1:n.*984A>C | |
| ENST00000684300.1:c.*984A>C | ENSP00000508407.1:n.*984A>C | |
| ENST00000684400.1:n.2813A>C | ||
| ENST00000684436.1:n.2238A>C | ||
| ENST00000684510.1:n.2300A>C | ||
| ENST00000320356.7:c.1922A>C MANE Select | ENSP00000320147.2:p.Glu641Ala | |
| ENST00000320356.6:c.1922A>C | ENSP00000320147.2:p.Glu641Ala | |
| ENST00000350995.6:c.1790A>C | ENSP00000223193.2:p.Glu597Ala | |
| ENST00000460911.5:c.1907A>C | ENSP00000419711.1:p.Glu636Ala | |
| ENST00000469631.1:n.174A>C | ||
| ENST00000476773.5:c.1754A>C | ENSP00000419050.1:p.Glu585Ala | |
| ENST00000478654.5:c.1754A>C | ENSP00000417062.1:p.Glu585Ala | |
| ENST00000483967.5:c.1880A>C | ENSP00000419856.1:p.Glu627Ala | |
| ENST00000492143.5:c.*1912A>C | ENSP00000417377.1:n.*1912A>C | |
| NM_001203247.1:c.1907A>C | NP_001190176.1:p.Glu636Ala | |
| NM_001203248.1:c.1880A>C | NP_001190177.1:p.Glu627Ala | |
| NM_001203249.1:c.1754A>C | NP_001190178.1:p.Glu585Ala | |
| NM_004456.4:c.1922A>C , LRG_531t1:c.1922A>C | NP_004447.2:p.Glu641Ala | |
| NM_152998.2:c.1790A>C | NP_694543.1:p.Glu597Ala | |
| XM_005249962.3:c.1931A>C | XP_005250019.1:p.Glu644Ala | |
| XM_005249963.3:c.1904A>C | XP_005250020.1:p.Glu635Ala | |
| XM_005249964.3:c.1778A>C | XP_005250021.1:p.Glu593Ala | |
| XM_011515883.1:c.1946A>C | XP_011514185.1:p.Glu649Ala | |
| XM_011515884.1:c.1922A>C | XP_011514186.1:p.Glu641Ala | |
| XM_011515885.1:c.1919A>C | XP_011514187.1:p.Glu640Ala | |
| XM_011515886.1:c.1898A>C | XP_011514188.1:p.Glu633Ala | |
| XM_011515887.1:c.1895A>C | XP_011514189.1:p.Glu632Ala | |
| XM_011515888.1:c.1895A>C | XP_011514190.1:p.Glu632Ala | |
| XM_011515889.1:c.1856A>C | XP_011514191.1:p.Glu619Ala | |
| XM_011515890.1:c.1829A>C | XP_011514192.1:p.Glu610Ala | |
| XM_011515891.1:c.1823A>C | XP_011514193.1:p.Glu608Ala | |
| XM_011515892.1:c.1820A>C | XP_011514194.1:p.Glu607Ala | |
| XM_011515893.1:c.1814A>C | XP_011514195.1:p.Glu605Ala | |
| XM_011515894.1:c.1805A>C | XP_011514196.1:p.Glu602Ala | |
| XM_011515895.1:c.1802A>C | XP_011514197.1:p.Glu601Ala | |
| XM_011515896.1:c.1688A>C | XP_011514198.1:p.Glu563Ala | |
| XM_011515897.1:c.1595A>C | XP_011514199.1:p.Glu532Ala | |
| XM_011515898.1:c.1595A>C | XP_011514200.1:p.Glu532Ala | |
| XR_928101.1:n.515+6565T>G | ||
| XR_928102.1:n.722+6565T>G | ||
| XM_005249962.4:c.1931A>C | XP_005250019.1:p.Glu644Ala | |
| XM_005249963.4:c.1904A>C | XP_005250020.1:p.Glu635Ala | |
| XM_005249964.4:c.1778A>C | XP_005250021.1:p.Glu593Ala | |
| XM_011515883.2:c.1946A>C | XP_011514185.1:p.Glu649Ala | |
| XM_011515884.2:c.1922A>C | XP_011514186.1:p.Glu641Ala | |
| XM_011515885.2:c.1919A>C | XP_011514187.1:p.Glu640Ala | |
| XM_011515886.2:c.1898A>C | XP_011514188.1:p.Glu633Ala | |
| XM_011515887.3:c.1895A>C | XP_011514189.1:p.Glu632Ala | |
| XM_011515888.2:c.1895A>C | XP_011514190.1:p.Glu632Ala | |
| XM_011515889.2:c.1856A>C | XP_011514191.1:p.Glu619Ala | |
| XM_011515890.2:c.1829A>C | XP_011514192.1:p.Glu610Ala | |
| XM_011515891.3:c.1823A>C | XP_011514193.1:p.Glu608Ala | |
| XM_011515892.2:c.1820A>C | XP_011514194.1:p.Glu607Ala | |
| XM_011515893.2:c.1814A>C | XP_011514195.1:p.Glu605Ala | |
| XM_011515894.2:c.1805A>C | XP_011514196.1:p.Glu602Ala | |
| XM_011515895.2:c.1802A>C | XP_011514197.1:p.Glu601Ala | |
| XM_011515896.2:c.1688A>C | XP_011514198.1:p.Glu563Ala | |
| XM_011515897.2:c.1595A>C | XP_011514199.1:p.Glu532Ala | |
| XM_011515898.2:c.1595A>C | XP_011514200.1:p.Glu532Ala | |
| XM_017011817.2:c.1946A>C | XP_016867306.1:p.Glu649Ala | |
| XM_017011818.1:c.1883A>C | XP_016867307.1:p.Glu628Ala | |
| XM_017011819.1:c.1805A>C | XP_016867308.1:p.Glu602Ala | |
| XM_017011820.2:c.1778A>C | XP_016867309.1:p.Glu593Ala | |
| XM_017011821.1:c.1580A>C | XP_016867310.1:p.Glu527Ala | |
| XM_024446680.1:c.1808A>C | XP_024302448.1:p.Glu603Ala | |
| XR_001744581.1:n.4296A>C | ||
| XR_002956413.1:n.4952A>C | ||
| XR_002956414.1:n.5412A>C | ||
| NM_001203247.2:c.1907A>C | NP_001190176.1:p.Glu636Ala | |
| NM_001203248.2:c.1880A>C | NP_001190177.1:p.Glu627Ala | |
| NM_001203249.2:c.1754A>C | NP_001190178.1:p.Glu585Ala | |
| NM_004456.5:c.1922A>C MANE Select | NP_004447.2:p.Glu641Ala | |
| NM_152998.3:c.1790A>C | NP_694543.1:p.Glu597Ala |