Linked Data
ClinVar Variation Id:
2000658
ClinVar RCV Id:
RCV002802163
dbSNP Id:
rs1342317999
gnomAD v2:
17-80882883-T-C
gnomAD v4:
17-82925007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925007T>C , CM000679.2:g.82925007T>C | GRCh38 |
| NC_000017.10:g.80882883T>C , CM000679.1:g.80882883T>C | GRCh37 |
| NC_000017.9:g.78476172T>C | NCBI36 |
| NG_011721.1:g.177944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1537T>C | ||
| ENST00000576677.6:n.1458T>C | ||
| ENST00000681983.1:n.2465T>C | ||
| ENST00000682099.1:n.1226T>C | ||
| ENST00000682213.1:c.*300T>C | ENSP00000508166.1:n.*300T>C | |
| ENST00000682315.1:c.643T>C | ENSP00000507232.1:p.Leu215= | |
| ENST00000682479.1:c.2419T>C | ENSP00000508214.1:p.Leu807= | |
| ENST00000682610.1:n.1569T>C | ||
| ENST00000682654.1:c.*300T>C | ENSP00000507412.1:n.*300T>C | |
| ENST00000682722.1:c.2278T>C | ENSP00000508364.1:p.Leu760= | |
| ENST00000683041.1:c.*300T>C | ENSP00000506994.1:n.*300T>C | |
| ENST00000683184.1:c.*1982T>C | ENSP00000507757.1:n.*1982T>C | |
| ENST00000683282.1:c.2245T>C | ENSP00000506913.1:p.Leu749= | |
| ENST00000683444.1:c.*1906T>C | ENSP00000507553.1:n.*1906T>C | |
| ENST00000683584.1:n.1152T>C | ||
| ENST00000683821.1:c.643T>C | ENSP00000507651.1:p.Leu215= | |
| ENST00000683839.1:n.1783T>C | ||
| ENST00000684000.1:c.2413T>C | ENSP00000506795.1:p.Leu805= | |
| ENST00000684188.1:c.2140T>C | ENSP00000507153.1:p.Leu714= | |
| ENST00000684349.1:c.2515T>C | ENSP00000508067.1:p.Leu839= | |
| ENST00000684361.1:c.2329T>C | ENSP00000507364.1:p.Leu777= | |
| ENST00000684408.1:c.1972T>C | ENSP00000506837.1:p.Leu658= | |
| ENST00000684429.1:c.2257T>C | ENSP00000507224.1:p.Leu753= | |
| ENST00000684464.1:c.2422T>C | ENSP00000508333.1:p.Leu808= | |
| ENST00000684544.1:c.2248T>C | ENSP00000507337.1:p.Leu750= | |
| ENST00000684559.1:n.1084T>C | ||
| ENST00000684760.1:c.2596T>C | ENSP00000507696.1:p.Leu866= | |
| ENST00000684776.1:c.*812T>C | ENSP00000507861.1:n.*812T>C | |
| ENST00000355528.9:c.2329T>C MANE Select | ENSP00000347719.4:p.Leu777= | |
| ENST00000355528.8:c.2329T>C | ENSP00000347719.4:p.Leu777= | |
| ENST00000539345.6:c.2329T>C | ENSP00000440671.2:p.Leu777= | |
| ENST00000571618.5:n.507T>C | ||
| ENST00000571796.5:n.987T>C | ||
| ENST00000574422.1:c.643T>C | ENSP00000458599.1:p.Leu215= | |
| ENST00000574818.5:n.387T>C | ||
| ENST00000574886.1:n.713T>C | ||
| ENST00000574975.5:c.706T>C | ENSP00000461680.1:p.Leu236= | |
| ENST00000576760.5:c.643T>C | ENSP00000460949.1:p.Leu215= | |
| NM_005993.4:c.2329T>C | NP_005984.3:p.Leu777= | |
| XM_005256396.3:c.2278T>C | XP_005256453.1:p.Leu760= | |
| XM_005256399.3:c.1045T>C | XP_005256456.1:p.Leu349= | |
| XM_005256400.3:c.643T>C | XP_005256457.1:p.Leu215= | |
| XM_005256401.3:c.643T>C | XP_005256458.1:p.Leu215= | |
| XM_005256402.3:c.643T>C | XP_005256459.1:p.Leu215= | |
| XM_005256403.3:c.643T>C | XP_005256460.1:p.Leu215= | |
| XM_005256404.3:c.643T>C | XP_005256461.1:p.Leu215= | |
| XM_006722290.2:c.2248T>C | XP_006722353.1:p.Leu750= | |
| XM_006722291.2:c.1033T>C | XP_006722354.1:p.Leu345= | |
| XM_006722292.2:c.643T>C | XP_006722355.1:p.Leu215= | |
| XM_011523589.1:c.1984T>C | XP_011521891.1:p.Leu662= | |
| XM_011523590.1:c.1972T>C | XP_011521892.1:p.Leu658= | |
| XM_011523591.1:c.1969T>C | XP_011521893.1:p.Leu657= | |
| XM_011523592.1:c.1882T>C | XP_011521894.1:p.Leu628= | |
| XM_011523593.1:c.1576T>C | XP_011521895.1:p.Leu526= | |
| XM_011523594.1:c.1057T>C | XP_011521896.1:p.Leu353= | |
| XM_011523595.1:c.1024T>C | XP_011521897.1:p.Leu342= | |
| XM_011523596.1:c.*60T>C | XP_011521898.1:n.*60T>C | |
| XM_011523597.1:c.790T>C | XP_011521899.1:p.Leu264= | |
| XM_011523598.1:c.787T>C | XP_011521900.1:p.Leu263= | |
| XM_011523599.1:c.781T>C | XP_011521901.1:p.Leu261= | |
| XM_011523600.1:c.643T>C | XP_011521902.1:p.Leu215= | |
| XR_430033.2:n.2437T>C | ||
| XM_005256396.4:c.2278T>C | XP_005256453.1:p.Leu760= | |
| XM_005256399.5:c.1045T>C | XP_005256456.1:p.Leu349= | |
| XM_005256404.4:c.643T>C | XP_005256461.1:p.Leu215= | |
| XM_006722291.4:c.1033T>C | XP_006722354.1:p.Leu345= | |
| XM_006722292.3:c.643T>C | XP_006722355.1:p.Leu215= | |
| XM_011523589.2:c.1984T>C | XP_011521891.1:p.Leu662= | |
| XM_011523591.2:c.1969T>C | XP_011521893.1:p.Leu657= | |
| XM_011523593.2:c.1576T>C | XP_011521895.1:p.Leu526= | |
| XM_011523594.2:c.1057T>C | XP_011521896.1:p.Leu353= | |
| XM_011523595.3:c.1024T>C | XP_011521897.1:p.Leu342= | |
| XM_011523597.2:c.790T>C | XP_011521899.1:p.Leu264= | |
| XM_011523599.2:c.781T>C | XP_011521901.1:p.Leu261= | |
| XM_011523600.3:c.643T>C | XP_011521902.1:p.Leu215= | |
| XM_017024987.1:c.2140T>C | XP_016880476.1:p.Leu714= | |
| XM_017024989.1:c.691T>C | XP_016880478.1:p.Leu231= | |
| XM_017024990.2:c.643T>C | XP_016880479.1:p.Leu215= | |
| XM_024450899.1:c.643T>C | XP_024306667.1:p.Leu215= | |
| XM_024450900.1:c.643T>C | XP_024306668.1:p.Leu215= | |
| XM_024450901.1:c.643T>C | XP_024306669.1:p.Leu215= | |
| XM_024450902.1:c.643T>C | XP_024306670.1:p.Leu215= | |
| XR_001752597.1:n.2437T>C | ||
| XR_001752598.1:n.2437T>C | ||
| XR_001752599.1:n.2437T>C | ||
| XR_001752600.1:n.2355T>C | ||
| NM_005993.5:c.2329T>C MANE Select | NP_005984.3:p.Leu777= |