Linked Data
ClinVar Variation Id:
2795482
ClinVar RCV Id:
RCV003675464
gnomAD v4:
17-82925021-C-T
MyVariant Identifiers:
chr17:g.80882897C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925021C>T , CM000679.2:g.82925021C>T | GRCh38 |
| NC_000017.10:g.80882897C>T , CM000679.1:g.80882897C>T | GRCh37 |
| NC_000017.9:g.78476186C>T | NCBI36 |
| NG_011721.1:g.177958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1551C>T | ||
| ENST00000576677.6:n.1472C>T | ||
| ENST00000681983.1:n.2479C>T | ||
| ENST00000682099.1:n.1240C>T | ||
| ENST00000682213.1:c.*314C>T | ENSP00000508166.1:n.*314C>T | |
| ENST00000682315.1:c.657C>T | ENSP00000507232.1:p.Ala219= | |
| ENST00000682479.1:c.2433C>T | ENSP00000508214.1:p.Ala811= | |
| ENST00000682610.1:n.1583C>T | ||
| ENST00000682654.1:c.*314C>T | ENSP00000507412.1:n.*314C>T | |
| ENST00000682722.1:c.2292C>T | ENSP00000508364.1:p.Ala764= | |
| ENST00000683041.1:c.*314C>T | ENSP00000506994.1:n.*314C>T | |
| ENST00000683184.1:c.*1996C>T | ENSP00000507757.1:n.*1996C>T | |
| ENST00000683282.1:c.2259C>T | ENSP00000506913.1:p.Ala753= | |
| ENST00000683444.1:c.*1920C>T | ENSP00000507553.1:n.*1920C>T | |
| ENST00000683584.1:n.1166C>T | ||
| ENST00000683821.1:c.657C>T | ENSP00000507651.1:p.Ala219= | |
| ENST00000683839.1:n.1797C>T | ||
| ENST00000684000.1:c.2427C>T | ENSP00000506795.1:p.Ala809= | |
| ENST00000684188.1:c.2154C>T | ENSP00000507153.1:p.Ala718= | |
| ENST00000684349.1:c.2529C>T | ENSP00000508067.1:p.Ala843= | |
| ENST00000684361.1:c.2343C>T | ENSP00000507364.1:p.Ala781= | |
| ENST00000684408.1:c.1986C>T | ENSP00000506837.1:p.Ala662= | |
| ENST00000684429.1:c.2271C>T | ENSP00000507224.1:p.Ala757= | |
| ENST00000684464.1:c.2436C>T | ENSP00000508333.1:p.Ala812= | |
| ENST00000684544.1:c.2262C>T | ENSP00000507337.1:p.Ala754= | |
| ENST00000684559.1:n.1098C>T | ||
| ENST00000684760.1:c.2610C>T | ENSP00000507696.1:p.Ala870= | |
| ENST00000684776.1:c.*826C>T | ENSP00000507861.1:n.*826C>T | |
| ENST00000355528.9:c.2343C>T MANE Select | ENSP00000347719.4:p.Ala781= | |
| ENST00000355528.8:c.2343C>T | ENSP00000347719.4:p.Ala781= | |
| ENST00000539345.6:c.2343C>T | ENSP00000440671.2:p.Ala781= | |
| ENST00000571618.5:n.521C>T | ||
| ENST00000571796.5:n.1001C>T | ||
| ENST00000574422.1:c.657C>T | ENSP00000458599.1:p.Ala219= | |
| ENST00000574818.5:n.401C>T | ||
| ENST00000574886.1:n.727C>T | ||
| ENST00000574975.5:c.720C>T | ENSP00000461680.1:p.Ala240= | |
| ENST00000576760.5:c.657C>T | ENSP00000460949.1:p.Ala219= | |
| NM_005993.4:c.2343C>T | NP_005984.3:p.Ala781= | |
| XM_005256396.3:c.2292C>T | XP_005256453.1:p.Ala764= | |
| XM_005256399.3:c.1059C>T | XP_005256456.1:p.Ala353= | |
| XM_005256400.3:c.657C>T | XP_005256457.1:p.Ala219= | |
| XM_005256401.3:c.657C>T | XP_005256458.1:p.Ala219= | |
| XM_005256402.3:c.657C>T | XP_005256459.1:p.Ala219= | |
| XM_005256403.3:c.657C>T | XP_005256460.1:p.Ala219= | |
| XM_005256404.3:c.657C>T | XP_005256461.1:p.Ala219= | |
| XM_006722290.2:c.2262C>T | XP_006722353.1:p.Ala754= | |
| XM_006722291.2:c.1047C>T | XP_006722354.1:p.Ala349= | |
| XM_006722292.2:c.657C>T | XP_006722355.1:p.Ala219= | |
| XM_011523589.1:c.1998C>T | XP_011521891.1:p.Ala666= | |
| XM_011523590.1:c.1986C>T | XP_011521892.1:p.Ala662= | |
| XM_011523591.1:c.1983C>T | XP_011521893.1:p.Ala661= | |
| XM_011523592.1:c.1896C>T | XP_011521894.1:p.Ala632= | |
| XM_011523593.1:c.1590C>T | XP_011521895.1:p.Ala530= | |
| XM_011523594.1:c.1071C>T | XP_011521896.1:p.Ala357= | |
| XM_011523595.1:c.1038C>T | XP_011521897.1:p.Ala346= | |
| XM_011523596.1:c.*74C>T | XP_011521898.1:n.*74C>T | |
| XM_011523597.1:c.804C>T | XP_011521899.1:p.Ala268= | |
| XM_011523598.1:c.801C>T | XP_011521900.1:p.Ala267= | |
| XM_011523599.1:c.795C>T | XP_011521901.1:p.Ala265= | |
| XM_011523600.1:c.657C>T | XP_011521902.1:p.Ala219= | |
| XR_430033.2:n.2451C>T | ||
| XM_005256396.4:c.2292C>T | XP_005256453.1:p.Ala764= | |
| XM_005256399.5:c.1059C>T | XP_005256456.1:p.Ala353= | |
| XM_005256404.4:c.657C>T | XP_005256461.1:p.Ala219= | |
| XM_006722291.4:c.1047C>T | XP_006722354.1:p.Ala349= | |
| XM_006722292.3:c.657C>T | XP_006722355.1:p.Ala219= | |
| XM_011523589.2:c.1998C>T | XP_011521891.1:p.Ala666= | |
| XM_011523591.2:c.1983C>T | XP_011521893.1:p.Ala661= | |
| XM_011523593.2:c.1590C>T | XP_011521895.1:p.Ala530= | |
| XM_011523594.2:c.1071C>T | XP_011521896.1:p.Ala357= | |
| XM_011523595.3:c.1038C>T | XP_011521897.1:p.Ala346= | |
| XM_011523597.2:c.804C>T | XP_011521899.1:p.Ala268= | |
| XM_011523599.2:c.795C>T | XP_011521901.1:p.Ala265= | |
| XM_011523600.3:c.657C>T | XP_011521902.1:p.Ala219= | |
| XM_017024987.1:c.2154C>T | XP_016880476.1:p.Ala718= | |
| XM_017024989.1:c.705C>T | XP_016880478.1:p.Ala235= | |
| XM_017024990.2:c.657C>T | XP_016880479.1:p.Ala219= | |
| XM_024450899.1:c.657C>T | XP_024306667.1:p.Ala219= | |
| XM_024450900.1:c.657C>T | XP_024306668.1:p.Ala219= | |
| XM_024450901.1:c.657C>T | XP_024306669.1:p.Ala219= | |
| XM_024450902.1:c.657C>T | XP_024306670.1:p.Ala219= | |
| XR_001752597.1:n.2451C>T | ||
| XR_001752598.1:n.2451C>T | ||
| XR_001752599.1:n.2451C>T | ||
| XR_001752600.1:n.2369C>T | ||
| NM_005993.5:c.2343C>T MANE Select | NP_005984.3:p.Ala781= |