dbSNP:
gnomAD v4:
Revel Score:
ENST00000478654
0.736
ENST00000320356 (MANE Select)
0.736
ENST00000460911
0.736
ENST00000350995
0.736
ENST00000541220
0.736
ENST00000476773
0.736
ENST00000483967
0.736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811696C>G , CM000669.2:g.148811696C>G | GRCh38 |
| NC_000007.13:g.148508788C>G , CM000669.1:g.148508788C>G | GRCh37 |
| NC_000007.12:g.148139721C>G | NCBI36 |
| NG_032043.1:g.77654G>C , LRG_531:g.77654G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3776G>C | ||
| ENST00000682317.1:c.*938G>C | ENSP00000508286.1:n.*938G>C | |
| ENST00000683292.1:c.*772G>C | ENSP00000507503.1:n.*772G>C | |
| ENST00000683293.1:n.3595G>C | ||
| ENST00000683744.1:c.*938G>C | ENSP00000506949.1:n.*938G>C | |
| ENST00000684300.1:c.*938G>C | ENSP00000508407.1:n.*938G>C | |
| ENST00000684400.1:n.2767G>C | ||
| ENST00000684436.1:n.2192G>C | ||
| ENST00000684510.1:n.2254G>C | ||
| ENST00000320356.7:c.1876G>C MANE Select | ENSP00000320147.2:p.Val626Leu | |
| ENST00000320356.6:c.1876G>C | ENSP00000320147.2:p.Val626Leu | |
| ENST00000350995.6:c.1744G>C | ENSP00000223193.2:p.Val582Leu | |
| ENST00000460911.5:c.1861G>C | ENSP00000419711.1:p.Val621Leu | |
| ENST00000469631.1:n.128G>C | ||
| ENST00000476773.5:c.1708G>C | ENSP00000419050.1:p.Val570Leu | |
| ENST00000478654.5:c.1708G>C | ENSP00000417062.1:p.Val570Leu | |
| ENST00000483967.5:c.1834G>C | ENSP00000419856.1:p.Val612Leu | |
| ENST00000492143.5:c.*1866G>C | ENSP00000417377.1:n.*1866G>C | |
| NM_001203247.1:c.1861G>C | NP_001190176.1:p.Val621Leu | |
| NM_001203248.1:c.1834G>C | NP_001190177.1:p.Val612Leu | |
| NM_001203249.1:c.1708G>C | NP_001190178.1:p.Val570Leu | |
| NM_004456.4:c.1876G>C , LRG_531t1:c.1876G>C | NP_004447.2:p.Val626Leu | |
| NM_152998.2:c.1744G>C | NP_694543.1:p.Val582Leu | |
| XM_005249962.3:c.1885G>C | XP_005250019.1:p.Val629Leu | |
| XM_005249963.3:c.1858G>C | XP_005250020.1:p.Val620Leu | |
| XM_005249964.3:c.1732G>C | XP_005250021.1:p.Val578Leu | |
| XM_011515883.1:c.1900G>C | XP_011514185.1:p.Val634Leu | |
| XM_011515884.1:c.1876G>C | XP_011514186.1:p.Val626Leu | |
| XM_011515885.1:c.1873G>C | XP_011514187.1:p.Val625Leu | |
| XM_011515886.1:c.1852G>C | XP_011514188.1:p.Val618Leu | |
| XM_011515887.1:c.1849G>C | XP_011514189.1:p.Val617Leu | |
| XM_011515888.1:c.1849G>C | XP_011514190.1:p.Val617Leu | |
| XM_011515889.1:c.1810G>C | XP_011514191.1:p.Val604Leu | |
| XM_011515890.1:c.1783G>C | XP_011514192.1:p.Val595Leu | |
| XM_011515891.1:c.1777G>C | XP_011514193.1:p.Val593Leu | |
| XM_011515892.1:c.1774G>C | XP_011514194.1:p.Val592Leu | |
| XM_011515893.1:c.1768G>C | XP_011514195.1:p.Val590Leu | |
| XM_011515894.1:c.1759G>C | XP_011514196.1:p.Val587Leu | |
| XM_011515895.1:c.1756G>C | XP_011514197.1:p.Val586Leu | |
| XM_011515896.1:c.1642G>C | XP_011514198.1:p.Val548Leu | |
| XM_011515897.1:c.1549G>C | XP_011514199.1:p.Val517Leu | |
| XM_011515898.1:c.1549G>C | XP_011514200.1:p.Val517Leu | |
| XR_928101.1:n.515+6611C>G | ||
| XR_928102.1:n.722+6611C>G | ||
| XM_005249962.4:c.1885G>C | XP_005250019.1:p.Val629Leu | |
| XM_005249963.4:c.1858G>C | XP_005250020.1:p.Val620Leu | |
| XM_005249964.4:c.1732G>C | XP_005250021.1:p.Val578Leu | |
| XM_011515883.2:c.1900G>C | XP_011514185.1:p.Val634Leu | |
| XM_011515884.2:c.1876G>C | XP_011514186.1:p.Val626Leu | |
| XM_011515885.2:c.1873G>C | XP_011514187.1:p.Val625Leu | |
| XM_011515886.2:c.1852G>C | XP_011514188.1:p.Val618Leu | |
| XM_011515887.3:c.1849G>C | XP_011514189.1:p.Val617Leu | |
| XM_011515888.2:c.1849G>C | XP_011514190.1:p.Val617Leu | |
| XM_011515889.2:c.1810G>C | XP_011514191.1:p.Val604Leu | |
| XM_011515890.2:c.1783G>C | XP_011514192.1:p.Val595Leu | |
| XM_011515891.3:c.1777G>C | XP_011514193.1:p.Val593Leu | |
| XM_011515892.2:c.1774G>C | XP_011514194.1:p.Val592Leu | |
| XM_011515893.2:c.1768G>C | XP_011514195.1:p.Val590Leu | |
| XM_011515894.2:c.1759G>C | XP_011514196.1:p.Val587Leu | |
| XM_011515895.2:c.1756G>C | XP_011514197.1:p.Val586Leu | |
| XM_011515896.2:c.1642G>C | XP_011514198.1:p.Val548Leu | |
| XM_011515897.2:c.1549G>C | XP_011514199.1:p.Val517Leu | |
| XM_011515898.2:c.1549G>C | XP_011514200.1:p.Val517Leu | |
| XM_017011817.2:c.1900G>C | XP_016867306.1:p.Val634Leu | |
| XM_017011818.1:c.1837G>C | XP_016867307.1:p.Val613Leu | |
| XM_017011819.1:c.1759G>C | XP_016867308.1:p.Val587Leu | |
| XM_017011820.2:c.1732G>C | XP_016867309.1:p.Val578Leu | |
| XM_017011821.1:c.1534G>C | XP_016867310.1:p.Val512Leu | |
| XM_024446680.1:c.1762G>C | XP_024302448.1:p.Val588Leu | |
| XR_001744581.1:n.4250G>C | ||
| XR_002956413.1:n.4906G>C | ||
| XR_002956414.1:n.5366G>C | ||
| NM_001203247.2:c.1861G>C | NP_001190176.1:p.Val621Leu | |
| NM_001203248.2:c.1834G>C | NP_001190177.1:p.Val612Leu | |
| NM_001203249.2:c.1708G>C | NP_001190178.1:p.Val570Leu | |
| NM_004456.5:c.1876G>C MANE Select | NP_004447.2:p.Val626Leu | |
| NM_152998.3:c.1744G>C | NP_694543.1:p.Val582Leu |