COSMIC:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000478654
0.929
ENST00000320356 (MANE Select)
0.929
ENST00000460911
0.929
ENST00000350995
0.929
ENST00000541220
0.929
ENST00000476773
0.929
ENST00000483967
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809375G>A , CM000669.2:g.148809375G>A | GRCh38 |
| NC_000007.13:g.148506467G>A , CM000669.1:g.148506467G>A | GRCh37 |
| NC_000007.12:g.148137400G>A | NCBI36 |
| NG_032043.1:g.79975C>T , LRG_531:g.79975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3945C>T | ||
| ENST00000682317.1:c.*1107C>T | ENSP00000508286.1:n.*1107C>T | |
| ENST00000683292.1:c.*941C>T | ENSP00000507503.1:n.*941C>T | |
| ENST00000683293.1:n.3764C>T | ||
| ENST00000683744.1:c.*1107C>T | ENSP00000506949.1:n.*1107C>T | |
| ENST00000684300.1:c.*1107C>T | ENSP00000508407.1:n.*1107C>T | |
| ENST00000684400.1:n.3878C>T | ||
| ENST00000684436.1:n.2361C>T | ||
| ENST00000684510.1:n.2423C>T | ||
| ENST00000320356.7:c.2045C>T MANE Select | ENSP00000320147.2:p.Ala682Val | |
| ENST00000320356.6:c.2045C>T | ENSP00000320147.2:p.Ala682Val | |
| ENST00000350995.6:c.1913C>T | ENSP00000223193.2:p.Ala638Val | |
| ENST00000460911.5:c.2030C>T | ENSP00000419711.1:p.Ala677Val | |
| ENST00000476773.5:c.1877C>T | ENSP00000419050.1:p.Ala626Val | |
| ENST00000478654.5:c.1877C>T | ENSP00000417062.1:p.Ala626Val | |
| ENST00000483967.5:c.2003C>T | ENSP00000419856.1:p.Ala668Val | |
| ENST00000492143.5:c.*2035C>T | ENSP00000417377.1:n.*2035C>T | |
| NM_001203247.1:c.2030C>T | NP_001190176.1:p.Ala677Val | |
| NM_001203248.1:c.2003C>T | NP_001190177.1:p.Ala668Val | |
| NM_001203249.1:c.1877C>T | NP_001190178.1:p.Ala626Val | |
| NM_004456.4:c.2045C>T , LRG_531t1:c.2045C>T | NP_004447.2:p.Ala682Val | |
| NM_152998.2:c.1913C>T | NP_694543.1:p.Ala638Val | |
| XM_005249962.3:c.2054C>T | XP_005250019.1:p.Ala685Val | |
| XM_005249963.3:c.2027C>T | XP_005250020.1:p.Ala676Val | |
| XM_005249964.3:c.1901C>T | XP_005250021.1:p.Ala634Val | |
| XM_011515883.1:c.2069C>T | XP_011514185.1:p.Ala690Val | |
| XM_011515884.1:c.2045C>T | XP_011514186.1:p.Ala682Val | |
| XM_011515885.1:c.2042C>T | XP_011514187.1:p.Ala681Val | |
| XM_011515886.1:c.2021C>T | XP_011514188.1:p.Ala674Val | |
| XM_011515887.1:c.2018C>T | XP_011514189.1:p.Ala673Val | |
| XM_011515888.1:c.2018C>T | XP_011514190.1:p.Ala673Val | |
| XM_011515889.1:c.1979C>T | XP_011514191.1:p.Ala660Val | |
| XM_011515890.1:c.1952C>T | XP_011514192.1:p.Ala651Val | |
| XM_011515891.1:c.1946C>T | XP_011514193.1:p.Ala649Val | |
| XM_011515892.1:c.1943C>T | XP_011514194.1:p.Ala648Val | |
| XM_011515893.1:c.1937C>T | XP_011514195.1:p.Ala646Val | |
| XM_011515894.1:c.1928C>T | XP_011514196.1:p.Ala643Val | |
| XM_011515895.1:c.1925C>T | XP_011514197.1:p.Ala642Val | |
| XM_011515896.1:c.1811C>T | XP_011514198.1:p.Ala604Val | |
| XM_011515897.1:c.1718C>T | XP_011514199.1:p.Ala573Val | |
| XM_011515898.1:c.1718C>T | XP_011514200.1:p.Ala573Val | |
| XR_928101.1:n.515+4290G>A | ||
| XR_928102.1:n.722+4290G>A | ||
| XM_005249962.4:c.2054C>T | XP_005250019.1:p.Ala685Val | |
| XM_005249963.4:c.2027C>T | XP_005250020.1:p.Ala676Val | |
| XM_005249964.4:c.1901C>T | XP_005250021.1:p.Ala634Val | |
| XM_011515883.2:c.2069C>T | XP_011514185.1:p.Ala690Val | |
| XM_011515884.2:c.2045C>T | XP_011514186.1:p.Ala682Val | |
| XM_011515885.2:c.2042C>T | XP_011514187.1:p.Ala681Val | |
| XM_011515886.2:c.2021C>T | XP_011514188.1:p.Ala674Val | |
| XM_011515887.3:c.2018C>T | XP_011514189.1:p.Ala673Val | |
| XM_011515888.2:c.2018C>T | XP_011514190.1:p.Ala673Val | |
| XM_011515889.2:c.1979C>T | XP_011514191.1:p.Ala660Val | |
| XM_011515890.2:c.1952C>T | XP_011514192.1:p.Ala651Val | |
| XM_011515891.3:c.1946C>T | XP_011514193.1:p.Ala649Val | |
| XM_011515892.2:c.1943C>T | XP_011514194.1:p.Ala648Val | |
| XM_011515893.2:c.1937C>T | XP_011514195.1:p.Ala646Val | |
| XM_011515894.2:c.1928C>T | XP_011514196.1:p.Ala643Val | |
| XM_011515895.2:c.1925C>T | XP_011514197.1:p.Ala642Val | |
| XM_011515896.2:c.1811C>T | XP_011514198.1:p.Ala604Val | |
| XM_011515897.2:c.1718C>T | XP_011514199.1:p.Ala573Val | |
| XM_011515898.2:c.1718C>T | XP_011514200.1:p.Ala573Val | |
| XM_017011817.2:c.2069C>T | XP_016867306.1:p.Ala690Val | |
| XM_017011818.1:c.2006C>T | XP_016867307.1:p.Ala669Val | |
| XM_017011819.1:c.1928C>T | XP_016867308.1:p.Ala643Val | |
| XM_017011820.2:c.1901C>T | XP_016867309.1:p.Ala634Val | |
| XM_017011821.1:c.1703C>T | XP_016867310.1:p.Ala568Val | |
| XM_024446680.1:c.1931C>T | XP_024302448.1:p.Ala644Val | |
| XR_001744581.1:n.4419C>T | ||
| XR_002956413.1:n.5075C>T | ||
| XR_002956414.1:n.5535C>T | ||
| NM_001203247.2:c.2030C>T | NP_001190176.1:p.Ala677Val | |
| NM_001203248.2:c.2003C>T | NP_001190177.1:p.Ala668Val | |
| NM_001203249.2:c.1877C>T | NP_001190178.1:p.Ala626Val | |
| NM_004456.5:c.2045C>T MANE Select | NP_004447.2:p.Ala682Val | |
| NM_152998.3:c.1913C>T | NP_694543.1:p.Ala638Val |