Linked Data
ClinVar Variation Id:
2515142
ClinVar RCV Id:
RCV003248754
dbSNP Id:
rs1278894404
gnomAD v2:
17-80882905-G-A
gnomAD v3:
17-82925029-G-A
gnomAD v4:
17-82925029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925029G>A , CM000679.2:g.82925029G>A | GRCh38 |
| NC_000017.10:g.80882905G>A , CM000679.1:g.80882905G>A | GRCh37 |
| NC_000017.9:g.78476194G>A | NCBI36 |
| NG_011721.1:g.177966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1559G>A | ||
| ENST00000576677.6:n.1480G>A | ||
| ENST00000681983.1:n.2487G>A | ||
| ENST00000682099.1:n.1248G>A | ||
| ENST00000682213.1:c.*322G>A | ENSP00000508166.1:n.*322G>A | |
| ENST00000682315.1:c.665G>A | ENSP00000507232.1:p.Gly222Asp | |
| ENST00000682479.1:c.2441G>A | ENSP00000508214.1:p.Gly814Asp | |
| ENST00000682610.1:n.1591G>A | ||
| ENST00000682654.1:c.*322G>A | ENSP00000507412.1:n.*322G>A | |
| ENST00000682722.1:c.2300G>A | ENSP00000508364.1:p.Gly767Asp | |
| ENST00000683041.1:c.*322G>A | ENSP00000506994.1:n.*322G>A | |
| ENST00000683184.1:c.*2004G>A | ENSP00000507757.1:n.*2004G>A | |
| ENST00000683282.1:c.2267G>A | ENSP00000506913.1:p.Gly756Asp | |
| ENST00000683444.1:c.*1928G>A | ENSP00000507553.1:n.*1928G>A | |
| ENST00000683584.1:n.1174G>A | ||
| ENST00000683821.1:c.665G>A | ENSP00000507651.1:p.Gly222Asp | |
| ENST00000683839.1:n.1805G>A | ||
| ENST00000684000.1:c.2435G>A | ENSP00000506795.1:p.Gly812Asp | |
| ENST00000684188.1:c.2162G>A | ENSP00000507153.1:p.Gly721Asp | |
| ENST00000684349.1:c.2537G>A | ENSP00000508067.1:p.Gly846Asp | |
| ENST00000684361.1:c.2351G>A | ENSP00000507364.1:p.Gly784Asp | |
| ENST00000684408.1:c.1994G>A | ENSP00000506837.1:p.Gly665Asp | |
| ENST00000684429.1:c.2279G>A | ENSP00000507224.1:p.Gly760Asp | |
| ENST00000684464.1:c.2444G>A | ENSP00000508333.1:p.Gly815Asp | |
| ENST00000684544.1:c.2270G>A | ENSP00000507337.1:p.Gly757Asp | |
| ENST00000684559.1:n.1106G>A | ||
| ENST00000684760.1:c.2618G>A | ENSP00000507696.1:p.Gly873Asp | |
| ENST00000684776.1:c.*834G>A | ENSP00000507861.1:n.*834G>A | |
| ENST00000355528.9:c.2351G>A MANE Select | ENSP00000347719.4:p.Gly784Asp | |
| ENST00000355528.8:c.2351G>A | ENSP00000347719.4:p.Gly784Asp | |
| ENST00000539345.6:c.2351G>A | ENSP00000440671.2:p.Gly784Asp | |
| ENST00000571618.5:n.529G>A | ||
| ENST00000571796.5:n.1009G>A | ||
| ENST00000574422.1:c.665G>A | ENSP00000458599.1:p.Gly222Asp | |
| ENST00000574818.5:n.409G>A | ||
| ENST00000574886.1:n.735G>A | ||
| ENST00000574975.5:c.728G>A | ENSP00000461680.1:p.Gly243Asp | |
| ENST00000576760.5:c.665G>A | ENSP00000460949.1:p.Gly222Asp | |
| NM_005993.4:c.2351G>A | NP_005984.3:p.Gly784Asp | |
| XM_005256396.3:c.2300G>A | XP_005256453.1:p.Gly767Asp | |
| XM_005256399.3:c.1067G>A | XP_005256456.1:p.Gly356Asp | |
| XM_005256400.3:c.665G>A | XP_005256457.1:p.Gly222Asp | |
| XM_005256401.3:c.665G>A | XP_005256458.1:p.Gly222Asp | |
| XM_005256402.3:c.665G>A | XP_005256459.1:p.Gly222Asp | |
| XM_005256403.3:c.665G>A | XP_005256460.1:p.Gly222Asp | |
| XM_005256404.3:c.665G>A | XP_005256461.1:p.Gly222Asp | |
| XM_006722290.2:c.2270G>A | XP_006722353.1:p.Gly757Asp | |
| XM_006722291.2:c.1055G>A | XP_006722354.1:p.Gly352Asp | |
| XM_006722292.2:c.665G>A | XP_006722355.1:p.Gly222Asp | |
| XM_011523589.1:c.2006G>A | XP_011521891.1:p.Gly669Asp | |
| XM_011523590.1:c.1994G>A | XP_011521892.1:p.Gly665Asp | |
| XM_011523591.1:c.1991G>A | XP_011521893.1:p.Gly664Asp | |
| XM_011523592.1:c.1904G>A | XP_011521894.1:p.Gly635Asp | |
| XM_011523593.1:c.1598G>A | XP_011521895.1:p.Gly533Asp | |
| XM_011523594.1:c.1079G>A | XP_011521896.1:p.Gly360Asp | |
| XM_011523595.1:c.1046G>A | XP_011521897.1:p.Gly349Asp | |
| XM_011523596.1:c.*82G>A | XP_011521898.1:n.*82G>A | |
| XM_011523597.1:c.812G>A | XP_011521899.1:p.Gly271Asp | |
| XM_011523598.1:c.809G>A | XP_011521900.1:p.Gly270Asp | |
| XM_011523599.1:c.803G>A | XP_011521901.1:p.Gly268Asp | |
| XM_011523600.1:c.665G>A | XP_011521902.1:p.Gly222Asp | |
| XR_430033.2:n.2459G>A | ||
| XM_005256396.4:c.2300G>A | XP_005256453.1:p.Gly767Asp | |
| XM_005256399.5:c.1067G>A | XP_005256456.1:p.Gly356Asp | |
| XM_005256404.4:c.665G>A | XP_005256461.1:p.Gly222Asp | |
| XM_006722291.4:c.1055G>A | XP_006722354.1:p.Gly352Asp | |
| XM_006722292.3:c.665G>A | XP_006722355.1:p.Gly222Asp | |
| XM_011523589.2:c.2006G>A | XP_011521891.1:p.Gly669Asp | |
| XM_011523591.2:c.1991G>A | XP_011521893.1:p.Gly664Asp | |
| XM_011523593.2:c.1598G>A | XP_011521895.1:p.Gly533Asp | |
| XM_011523594.2:c.1079G>A | XP_011521896.1:p.Gly360Asp | |
| XM_011523595.3:c.1046G>A | XP_011521897.1:p.Gly349Asp | |
| XM_011523597.2:c.812G>A | XP_011521899.1:p.Gly271Asp | |
| XM_011523599.2:c.803G>A | XP_011521901.1:p.Gly268Asp | |
| XM_011523600.3:c.665G>A | XP_011521902.1:p.Gly222Asp | |
| XM_017024987.1:c.2162G>A | XP_016880476.1:p.Gly721Asp | |
| XM_017024989.1:c.713G>A | XP_016880478.1:p.Gly238Asp | |
| XM_017024990.2:c.665G>A | XP_016880479.1:p.Gly222Asp | |
| XM_024450899.1:c.665G>A | XP_024306667.1:p.Gly222Asp | |
| XM_024450900.1:c.665G>A | XP_024306668.1:p.Gly222Asp | |
| XM_024450901.1:c.665G>A | XP_024306669.1:p.Gly222Asp | |
| XM_024450902.1:c.665G>A | XP_024306670.1:p.Gly222Asp | |
| XR_001752597.1:n.2459G>A | ||
| XR_001752598.1:n.2459G>A | ||
| XR_001752599.1:n.2459G>A | ||
| XR_001752600.1:n.2377G>A | ||
| NM_005993.5:c.2351G>A MANE Select | NP_005984.3:p.Gly784Asp |