dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811741A>C , CM000669.2:g.148811741A>C | GRCh38 |
| NC_000007.13:g.148508833A>C , CM000669.1:g.148508833A>C | GRCh37 |
| NC_000007.12:g.148139766A>C | NCBI36 |
| NG_032043.1:g.77609T>G , LRG_531:g.77609T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3752-21T>G | ||
| ENST00000682317.1:c.*914-21T>G | ENSP00000508286.1:n.*914-21T>G | |
| ENST00000683292.1:c.*748-21T>G | ENSP00000507503.1:n.*748-21T>G | |
| ENST00000683293.1:n.3571-21T>G | ||
| ENST00000683744.1:c.*914-21T>G | ENSP00000506949.1:n.*914-21T>G | |
| ENST00000684300.1:c.*914-21T>G | ENSP00000508407.1:n.*914-21T>G | |
| ENST00000684400.1:n.2743-21T>G | ||
| ENST00000684436.1:n.2168-21T>G | ||
| ENST00000684510.1:n.2230-21T>G | ||
| ENST00000320356.7:c.1852-21T>G MANE Select | ENSP00000320147.2:n.1852-21T>G | |
| ENST00000320356.6:c.1852-21T>G | ENSP00000320147.2:n.1852-21T>G | |
| ENST00000350995.6:c.1720-21T>G | ENSP00000223193.2:n.1720-21T>G | |
| ENST00000460911.5:c.1837-21T>G | ENSP00000419711.1:n.1837-21T>G | |
| ENST00000469631.1:n.83T>G | ||
| ENST00000476773.5:c.1684-21T>G | ENSP00000419050.1:n.1684-21T>G | |
| ENST00000478654.5:c.1684-21T>G | ENSP00000417062.1:n.1684-21T>G | |
| ENST00000483967.5:c.1810-21T>G | ENSP00000419856.1:n.1810-21T>G | |
| ENST00000492143.5:c.*1842-21T>G | ENSP00000417377.1:n.*1842-21T>G | |
| NM_001203247.1:c.1837-21T>G | NP_001190176.1:n.1837-21T>G | |
| NM_001203248.1:c.1810-21T>G | NP_001190177.1:n.1810-21T>G | |
| NM_001203249.1:c.1684-21T>G | NP_001190178.1:n.1684-21T>G | |
| NM_004456.4:c.1852-21T>G , LRG_531t1:c.1852-21T>G | NP_004447.2:n.1852-21T>G | |
| NM_152998.2:c.1720-21T>G | NP_694543.1:n.1720-21T>G | |
| XM_005249962.3:c.1861-21T>G | XP_005250019.1:n.1861-21T>G | |
| XM_005249963.3:c.1834-21T>G | XP_005250020.1:n.1834-21T>G | |
| XM_005249964.3:c.1708-21T>G | XP_005250021.1:n.1708-21T>G | |
| XM_011515883.1:c.1876-21T>G | XP_011514185.1:n.1876-21T>G | |
| XM_011515884.1:c.1852-21T>G | XP_011514186.1:n.1852-21T>G | |
| XM_011515885.1:c.1849-21T>G | XP_011514187.1:n.1849-21T>G | |
| XM_011515886.1:c.1828-21T>G | XP_011514188.1:n.1828-21T>G | |
| XM_011515887.1:c.1825-21T>G | XP_011514189.1:n.1825-21T>G | |
| XM_011515888.1:c.1825-21T>G | XP_011514190.1:n.1825-21T>G | |
| XM_011515889.1:c.1786-21T>G | XP_011514191.1:n.1786-21T>G | |
| XM_011515890.1:c.1759-21T>G | XP_011514192.1:n.1759-21T>G | |
| XM_011515891.1:c.1753-21T>G | XP_011514193.1:n.1753-21T>G | |
| XM_011515892.1:c.1750-21T>G | XP_011514194.1:n.1750-21T>G | |
| XM_011515893.1:c.1744-21T>G | XP_011514195.1:n.1744-21T>G | |
| XM_011515894.1:c.1735-21T>G | XP_011514196.1:n.1735-21T>G | |
| XM_011515895.1:c.1732-21T>G | XP_011514197.1:n.1732-21T>G | |
| XM_011515896.1:c.1618-21T>G | XP_011514198.1:n.1618-21T>G | |
| XM_011515897.1:c.1525-21T>G | XP_011514199.1:n.1525-21T>G | |
| XM_011515898.1:c.1525-21T>G | XP_011514200.1:n.1525-21T>G | |
| XR_928101.1:n.515+6656A>C | ||
| XR_928102.1:n.722+6656A>C | ||
| XM_005249962.4:c.1861-21T>G | XP_005250019.1:n.1861-21T>G | |
| XM_005249963.4:c.1834-21T>G | XP_005250020.1:n.1834-21T>G | |
| XM_005249964.4:c.1708-21T>G | XP_005250021.1:n.1708-21T>G | |
| XM_011515883.2:c.1876-21T>G | XP_011514185.1:n.1876-21T>G | |
| XM_011515884.2:c.1852-21T>G | XP_011514186.1:n.1852-21T>G | |
| XM_011515885.2:c.1849-21T>G | XP_011514187.1:n.1849-21T>G | |
| XM_011515886.2:c.1828-21T>G | XP_011514188.1:n.1828-21T>G | |
| XM_011515887.3:c.1825-21T>G | XP_011514189.1:n.1825-21T>G | |
| XM_011515888.2:c.1825-21T>G | XP_011514190.1:n.1825-21T>G | |
| XM_011515889.2:c.1786-21T>G | XP_011514191.1:n.1786-21T>G | |
| XM_011515890.2:c.1759-21T>G | XP_011514192.1:n.1759-21T>G | |
| XM_011515891.3:c.1753-21T>G | XP_011514193.1:n.1753-21T>G | |
| XM_011515892.2:c.1750-21T>G | XP_011514194.1:n.1750-21T>G | |
| XM_011515893.2:c.1744-21T>G | XP_011514195.1:n.1744-21T>G | |
| XM_011515894.2:c.1735-21T>G | XP_011514196.1:n.1735-21T>G | |
| XM_011515895.2:c.1732-21T>G | XP_011514197.1:n.1732-21T>G | |
| XM_011515896.2:c.1618-21T>G | XP_011514198.1:n.1618-21T>G | |
| XM_011515897.2:c.1525-21T>G | XP_011514199.1:n.1525-21T>G | |
| XM_011515898.2:c.1525-21T>G | XP_011514200.1:n.1525-21T>G | |
| XM_017011817.2:c.1876-21T>G | XP_016867306.1:n.1876-21T>G | |
| XM_017011818.1:c.1813-21T>G | XP_016867307.1:n.1813-21T>G | |
| XM_017011819.1:c.1735-21T>G | XP_016867308.1:n.1735-21T>G | |
| XM_017011820.2:c.1708-21T>G | XP_016867309.1:n.1708-21T>G | |
| XM_017011821.1:c.1510-21T>G | XP_016867310.1:n.1510-21T>G | |
| XM_024446680.1:c.1738-21T>G | XP_024302448.1:n.1738-21T>G | |
| XR_001744581.1:n.4226-21T>G | ||
| XR_002956413.1:n.4882-21T>G | ||
| XR_002956414.1:n.5342-21T>G | ||
| NM_001203247.2:c.1837-21T>G | NP_001190176.1:n.1837-21T>G | |
| NM_001203248.2:c.1810-21T>G | NP_001190177.1:n.1810-21T>G | |
| NM_001203249.2:c.1684-21T>G | NP_001190178.1:n.1684-21T>G | |
| NM_004456.5:c.1852-21T>G MANE Select | NP_004447.2:n.1852-21T>G | |
| NM_152998.3:c.1720-21T>G | NP_694543.1:n.1720-21T>G |