Linked Data
ClinVar Variation Id:
142151
dbSNP Id:
rs587782268
ExAC:
22:29092931 C / A
gnomAD v2:
22-29092931-C-A
gnomAD v3:
22-28696943-C-A
gnomAD v4:
22-28696943-C-A
COSMIC:
COSM1033063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696943C>A , CM000684.2:g.28696943C>A | GRCh38 |
| NC_000022.10:g.29092931C>A , CM000684.1:g.29092931C>A | GRCh37 |
| NC_000022.9:g.27422931C>A | NCBI36 |
| NG_008150.1:g.49892G>T | |
| NG_008150.2:g.49924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1701G>T | ENSP00000518557.1:n.1009-1701G>T | |
| ENST00000402731.6:c.852G>T | ENSP00000384835.2:p.Glu284Asp | |
| ENST00000404276.6:c.1053G>T MANE Select | ENSP00000385747.1:p.Glu351Asp | |
| ENST00000425190.7:c.390G>T | ENSP00000390244.2:p.Glu130Asp | |
| ENST00000464581.6:c.393G>T | ENSP00000483777.2:p.Glu131Asp | |
| ENST00000648295.1:n.605G>T | ||
| ENST00000649563.1:c.390G>T | ENSP00000496928.1:p.Glu130Asp | |
| ENST00000650281.1:c.1053G>T | ENSP00000497000.1:p.Glu351Asp | |
| ENST00000328354.10:c.1053G>T | ENSP00000329178.6:p.Glu351Asp | |
| ENST00000348295.7:c.1009-1070G>T | ENSP00000329012.5:n.1009-1070G>T | |
| ENST00000382580.6:c.1182G>T | ENSP00000372023.2:p.Glu394Asp | |
| ENST00000402731.5:c.1009-1070G>T | ENSP00000384835.1:n.1009-1070G>T | |
| ENST00000403642.5:c.780G>T | ENSP00000384919.1:p.Glu260Asp | |
| ENST00000404276.5:c.1053G>T | ENSP00000385747.1:p.Glu351Asp | |
| ENST00000405598.5:c.1053G>T | ENSP00000386087.1:p.Glu351Asp | |
| ENST00000416671.5:c.*543G>T | ENSP00000402225.1:n.*543G>T | |
| ENST00000417588.5:c.962G>T | ENSP00000412901.1:n.962G>T | |
| ENST00000433028.6:c.*778G>T | ENSP00000403659.1:n.*778G>T | |
| ENST00000433728.5:c.991G>T | ENSP00000404400.1:n.991G>T | |
| ENST00000434810.5:c.284G>T | ||
| ENST00000447421.5:c.852G>T | ENSP00000397478.2:p.Glu284Asp | |
| ENST00000448511.5:c.943G>T | ENSP00000404567.1:n.943G>T | |
| ENST00000456369.5:c.263+2895G>T | ||
| ENST00000464581.5:c.393G>T | ENSP00000483777.1:p.Glu131Asp | |
| NM_001005735.1:c.1182G>T | NP_001005735.1:p.Glu394Asp | |
| NM_001257387.1:c.390G>T | NP_001244316.1:p.Glu130Asp | |
| NM_007194.3:c.1053G>T | NP_009125.1:p.Glu351Asp | |
| NM_145862.2:c.1009-1070G>T | NP_665861.1:n.1009-1070G>T | |
| XM_006724114.2:c.573G>T | XP_006724177.1:p.Glu191Asp | |
| XM_006724116.2:c.510G>T | XP_006724179.2:p.Glu170Asp | |
| XM_011529839.1:c.1212G>T | XP_011528141.1:p.Glu404Asp | |
| XM_011529840.1:c.1168-1070G>T | XP_011528142.1:n.1168-1070G>T | |
| XM_011529841.1:c.981G>T | XP_011528143.1:p.Glu327Asp | |
| XM_011529842.1:c.882G>T | XP_011528144.1:p.Glu294Asp | |
| XM_011529843.1:c.852G>T | XP_011528145.1:p.Glu284Asp | |
| XM_011529845.1:c.390G>T | XP_011528147.1:p.Glu130Asp | |
| XR_937805.1:n.1212G>T | ||
| XR_937806.1:n.1163-1070G>T | ||
| NM_001349956.1:c.852G>T | NP_001336885.1:p.Glu284Asp | |
| NM_007194.4:c.1053G>T MANE Select | NP_009125.1:p.Glu351Asp | |
| XM_006724114.3:c.606G>T | XP_006724177.2:p.Glu202Asp | |
| XM_011529839.2:c.1212G>T | XP_011528141.1:p.Glu404Asp | |
| XM_011529840.3:c.1168-1070G>T | XP_011528142.1:n.1168-1070G>T | |
| XM_011529842.2:c.882G>T | XP_011528144.1:p.Glu294Asp | |
| XM_011529845.2:c.390G>T | XP_011528147.1:p.Glu130Asp | |
| XM_017028560.1:c.1176G>T | XP_016884049.1:p.Glu392Asp | |
| XM_017028561.2:c.390G>T | XP_016884050.1:p.Glu130Asp | |
| XM_024452148.1:c.1083G>T | XP_024307916.1:p.Glu361Asp | |
| XM_024452149.1:c.1039-1070G>T | XP_024307917.1:n.1039-1070G>T | |
| XR_937805.2:n.1223G>T | ||
| XR_937806.2:n.1179-1070G>T | ||
| NM_001005735.2:c.1182G>T | NP_001005735.1:p.Glu394Asp | |
| NM_001257387.2:c.390G>T | NP_001244316.1:p.Glu130Asp | |
| NM_001349956.2:c.852G>T | NP_001336885.1:p.Glu284Asp |