Linked Data
ClinVar Variation Id:
216780
dbSNP Id:
rs115328064
ExAC:
16:56533694 T / G
gnomAD v2:
16-56533694-T-G
gnomAD v3:
16-56499782-T-G
gnomAD v4:
16-56499782-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56499782T>G , CM000678.2:g.56499782T>G | GRCh38 |
| NC_000016.9:g.56533694T>G , CM000678.1:g.56533694T>G | GRCh37 |
| NC_000016.8:g.55091195T>G | NCBI36 |
| NG_009312.1:g.25502A>C | |
| NG_009312.2:g.25243A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1385A>C | ENSP00000454986.2:n.1385A>C | |
| ENST00000562012.2:c.*1352A>C | ENSP00000455651.2:n.*1352A>C | |
| ENST00000562813.2:n.1138A>C | ||
| ENST00000564459.6:n.250A>C | ||
| ENST00000565781.6:n.3845A>C | ||
| ENST00000565859.2:n.2597A>C | ||
| ENST00000566210.2:n.1952A>C | ||
| ENST00000566410.2:n.3828A>C | ||
| ENST00000566452.2:n.218A>C | ||
| ENST00000566495.2:n.492A>C | ||
| ENST00000568104.6:c.1523A>C | ENSP00000456289.1:p.Gln508Pro | |
| ENST00000569192.6:n.503A>C | ||
| ENST00000618027.2:n.302A>C | ||
| ENST00000682000.1:n.1081A>C | ||
| ENST00000682001.1:n.2552A>C | ||
| ENST00000682005.1:n.1514A>C | ||
| ENST00000682038.1:c.*787A>C | ENSP00000508404.1:n.*787A>C | |
| ENST00000682047.1:c.1523A>C | ENSP00000507699.1:p.Gln508Pro | |
| ENST00000682088.1:c.*3255A>C | ENSP00000508064.1:n.*3255A>C | |
| ENST00000682096.1:n.2764A>C | ||
| ENST00000682113.1:n.2531A>C | ||
| ENST00000682146.1:n.2555A>C | ||
| ENST00000682187.1:c.*947A>C | ENSP00000507203.1:n.*947A>C | |
| ENST00000682188.1:c.1523A>C | ENSP00000507655.1:p.Gln508Pro | |
| ENST00000682201.1:n.1514A>C | ||
| ENST00000682205.1:c.1523A>C | ENSP00000508377.1:p.Gln508Pro | |
| ENST00000682348.1:c.*572A>C | ENSP00000506965.1:n.*572A>C | |
| ENST00000682360.1:c.926A>C | ENSP00000508007.1:p.Gln309Pro | |
| ENST00000682370.1:n.2764A>C | ||
| ENST00000682420.1:n.1945A>C | ||
| ENST00000682429.1:c.*64A>C | ENSP00000506827.1:n.*64A>C | |
| ENST00000682449.1:c.*274A>C | ENSP00000507836.1:n.*274A>C | |
| ENST00000682470.1:c.1523A>C | ENSP00000507654.1:p.Gln508Pro | |
| ENST00000682473.1:n.1488A>C | ||
| ENST00000682482.1:c.1397A>C | ENSP00000507903.1:p.Gln466Pro | |
| ENST00000682492.1:n.1611A>C | ||
| ENST00000682493.1:c.1523A>C | ENSP00000506778.1:p.Gln508Pro | |
| ENST00000682543.1:c.*947A>C | ENSP00000507592.1:n.*947A>C | |
| ENST00000682597.1:n.3710A>C | ||
| ENST00000682658.1:c.*555A>C | ENSP00000507773.1:n.*555A>C | |
| ENST00000682705.1:n.2592A>C | ||
| ENST00000682723.1:c.926A>C | ENSP00000507115.1:p.Gln309Pro | |
| ENST00000682735.1:c.*1982A>C | ENSP00000507007.1:n.*1982A>C | |
| ENST00000682737.1:c.926A>C | ENSP00000506876.1:p.Gln309Pro | |
| ENST00000682757.1:n.3091A>C | ||
| ENST00000682855.1:c.1523A>C | ENSP00000507027.1:p.Gln508Pro | |
| ENST00000682857.1:n.1736A>C | ||
| ENST00000682875.1:c.1523A>C | ENSP00000507771.1:p.Gln508Pro | |
| ENST00000682930.1:c.1448A>C | ENSP00000507981.1:p.Gln483Pro | |
| ENST00000682948.1:n.2555A>C | ||
| ENST00000682960.1:n.2555A>C | ||
| ENST00000683008.1:n.3710A>C | ||
| ENST00000683020.1:c.*64A>C | ENSP00000507944.1:n.*64A>C | |
| ENST00000683099.1:n.2764A>C | ||
| ENST00000683170.1:n.2039A>C | ||
| ENST00000683212.1:c.*64A>C | ENSP00000507839.1:n.*64A>C | |
| ENST00000683248.1:n.2272A>C | ||
| ENST00000683343.1:n.2377A>C | ||
| ENST00000683347.1:n.1730A>C | ||
| ENST00000683384.1:c.1544A>C | ENSP00000508330.1:n.1544A>C | |
| ENST00000683396.1:n.3091A>C | ||
| ENST00000683410.1:n.1945A>C | ||
| ENST00000683443.1:n.1157A>C | ||
| ENST00000683485.1:n.2882A>C | ||
| ENST00000683504.1:n.5905A>C | ||
| ENST00000683533.1:c.*947A>C | ENSP00000508296.1:n.*947A>C | |
| ENST00000683609.1:n.2383A>C | ||
| ENST00000683644.1:c.*572A>C | ENSP00000507914.1:n.*572A>C | |
| ENST00000683660.1:n.1736A>C | ||
| ENST00000683669.1:n.1406A>C | ||
| ENST00000683690.1:c.*1766A>C | ENSP00000508152.1:n.*1766A>C | |
| ENST00000683719.1:n.1506A>C | ||
| ENST00000683757.1:n.1512A>C | ||
| ENST00000683858.1:c.1475A>C | ENSP00000507657.1:p.Gln492Pro | |
| ENST00000683875.1:c.1295A>C | ENSP00000507602.1:p.Gln432Pro | |
| ENST00000683904.1:n.3828A>C | ||
| ENST00000683910.1:n.3009A>C | ||
| ENST00000683959.1:c.*572A>C | ENSP00000508309.1:n.*572A>C | |
| ENST00000683976.1:c.*1072A>C | ENSP00000507183.1:n.*1072A>C | |
| ENST00000683978.1:n.1666A>C | ||
| ENST00000683992.1:c.*1163A>C | ENSP00000508144.1:n.*1163A>C | |
| ENST00000684020.1:n.1945A>C | ||
| ENST00000684044.1:n.2383A>C | ||
| ENST00000684057.1:n.2313A>C | ||
| ENST00000684076.1:n.1694A>C | ||
| ENST00000684128.1:n.3091A>C | ||
| ENST00000684194.1:n.1945A>C | ||
| ENST00000684205.1:n.3202A>C | ||
| ENST00000684246.1:c.*1163A>C | ENSP00000508273.1:n.*1163A>C | |
| ENST00000684388.1:c.443A>C | ENSP00000507647.1:p.Gln148Pro | |
| ENST00000684402.1:n.2764A>C | ||
| ENST00000684446.1:n.2882A>C | ||
| ENST00000684531.1:n.1756A>C | ||
| ENST00000684635.1:c.1418A>C | ENSP00000507335.1:p.Gln473Pro | |
| ENST00000684640.1:c.1357A>C | ENSP00000507292.1:n.1357A>C | |
| ENST00000684673.1:c.1523A>C | ENSP00000507746.1:p.Gln508Pro | |
| ENST00000684684.1:c.*775A>C | ENSP00000507026.1:n.*775A>C | |
| ENST00000245157.11:c.1523A>C MANE Select | ENSP00000245157.5:p.Gln508Pro | |
| ENST00000245157.9:c.1523A>C | ENSP00000245157.5:p.Gln508Pro | |
| ENST00000561877.1:c.219A>C | ||
| ENST00000562813.1:n.1138A>C | ||
| ENST00000565781.5:n.3845A>C | ||
| ENST00000566410.1:n.142A>C | ||
| ENST00000566452.1:n.218A>C | ||
| ENST00000566495.1:n.492A>C | ||
| ENST00000568104.5:c.1523A>C | ENSP00000456289.1:p.Gln508Pro | |
| ENST00000569192.5:n.197A>C | ||
| NM_031885.3:c.1523A>C | NP_114091.3:p.Gln508Pro | |
| XM_005256080.1:c.1523A>C | XP_005256137.1:p.Gln508Pro | |
| XM_005256081.1:c.1523A>C | XP_005256138.1:p.Gln508Pro | |
| XM_005256082.1:c.1523A>C | XP_005256139.1:p.Gln508Pro | |
| XR_933378.1:n.1584A>C | ||
| XR_933379.1:n.1584A>C | ||
| XR_933380.1:n.1584A>C | ||
| XM_005256080.2:c.1523A>C | XP_005256137.1:p.Gln508Pro | |
| XR_001751958.1:n.1756A>C | ||
| XR_001751959.2:n.1756A>C | ||
| XR_001751960.1:n.1584A>C | ||
| XR_001751961.1:n.1584A>C | ||
| XR_933380.2:n.1584A>C | ||
| NM_031885.4:c.1523A>C | NP_114091.3:p.Gln508Pro | |
| NM_001377456.1:c.1523A>C | NP_001364385.1:p.Gln508Pro | |
| NM_031885.5:c.1523A>C MANE Select | NP_114091.4:p.Gln508Pro | |
| NR_165293.1:n.1685A>C | ||
| NR_165294.1:n.1685A>C | ||
| NR_165295.1:n.1513A>C | ||
| NR_165296.1:n.1513A>C | ||
| NR_165297.1:n.1513A>C |