Linked Data
ClinVar Variation Id:
656556
ClinVar RCV Id:
RCV002397681
dbSNP Id:
rs563752762
gnomAD v2:
22-29095831-C-A
gnomAD v4:
22-28699843-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699843C>A , CM000684.2:g.28699843C>A | GRCh38 |
| NC_000022.10:g.29095831C>A , CM000684.1:g.29095831C>A | GRCh37 |
| NC_000022.9:g.27425831C>A | NCBI36 |
| NG_008150.1:g.46992G>T | |
| NG_008150.2:g.47024G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.912G>T | ENSP00000396903.2:n.912G>T | |
| ENST00000711048.1:c.1003G>T | ENSP00000518557.1:p.Val335Leu | |
| ENST00000402731.6:c.802G>T | ENSP00000384835.2:p.Val268Leu | |
| ENST00000404276.6:c.1003G>T MANE Select | ENSP00000385747.1:p.Val335Leu | |
| ENST00000425190.7:c.340G>T | ENSP00000390244.2:p.Val114Leu | |
| ENST00000464581.6:c.343G>T | ENSP00000483777.2:p.Val115Leu | |
| ENST00000648295.1:n.555G>T | ||
| ENST00000649563.1:c.340G>T | ENSP00000496928.1:p.Val114Leu | |
| ENST00000650281.1:c.1003G>T | ENSP00000497000.1:p.Val335Leu | |
| ENST00000328354.10:c.1003G>T | ENSP00000329178.6:p.Val335Leu | |
| ENST00000348295.7:c.1003G>T | ENSP00000329012.5:p.Val335Leu | |
| ENST00000382580.6:c.1132G>T | ENSP00000372023.2:p.Val378Leu | |
| ENST00000402731.5:c.1003G>T | ENSP00000384835.1:p.Val335Leu | |
| ENST00000403642.5:c.730G>T | ENSP00000384919.1:p.Val244Leu | |
| ENST00000404276.5:c.1003G>T | ENSP00000385747.1:p.Val335Leu | |
| ENST00000405598.5:c.1003G>T | ENSP00000386087.1:p.Val335Leu | |
| ENST00000416671.5:c.*493G>T | ENSP00000402225.1:n.*493G>T | |
| ENST00000417588.5:c.912G>T | ENSP00000412901.1:n.912G>T | |
| ENST00000425190.6:c.340G>T | ENSP00000390244.1:p.Val114Leu | |
| ENST00000433028.6:c.*728G>T | ENSP00000403659.1:n.*728G>T | |
| ENST00000433728.5:c.941G>T | ENSP00000404400.1:n.941G>T | |
| ENST00000434810.5:c.234G>T | ||
| ENST00000439346.5:c.474G>T | ENSP00000396903.1:n.474G>T | |
| ENST00000447421.5:c.802G>T | ENSP00000397478.2:p.Val268Leu | |
| ENST00000448511.5:c.893G>T | ENSP00000404567.1:n.893G>T | |
| ENST00000456369.5:c.258G>T | ||
| ENST00000464581.5:c.343G>T | ENSP00000483777.1:p.Val115Leu | |
| ENST00000491919.5:n.560G>T | ||
| NM_001005735.1:c.1132G>T | NP_001005735.1:p.Val378Leu | |
| NM_001257387.1:c.340G>T | NP_001244316.1:p.Val114Leu | |
| NM_007194.3:c.1003G>T | NP_009125.1:p.Val335Leu | |
| NM_145862.2:c.1003G>T | NP_665861.1:p.Val335Leu | |
| XM_006724114.2:c.523G>T | XP_006724177.1:p.Val175Leu | |
| XM_006724116.2:c.460G>T | XP_006724179.2:p.Val154Leu | |
| XM_011529839.1:c.1162G>T | XP_011528141.1:p.Val388Leu | |
| XM_011529840.1:c.1162G>T | XP_011528142.1:p.Val388Leu | |
| XM_011529841.1:c.931G>T | XP_011528143.1:p.Val311Leu | |
| XM_011529842.1:c.832G>T | XP_011528144.1:p.Val278Leu | |
| XM_011529843.1:c.802G>T | XP_011528145.1:p.Val268Leu | |
| XM_011529844.1:c.1162G>T | XP_011528146.1:p.Val388Leu | |
| XM_011529845.1:c.340G>T | XP_011528147.1:p.Val114Leu | |
| XR_937805.1:n.1162G>T | ||
| XR_937806.1:n.1157G>T | ||
| XR_937807.1:n.1157G>T | ||
| NM_001349956.1:c.802G>T | NP_001336885.1:p.Val268Leu | |
| NM_007194.4:c.1003G>T MANE Select | NP_009125.1:p.Val335Leu | |
| XM_006724114.3:c.556G>T | XP_006724177.2:p.Val186Leu | |
| XM_011529839.2:c.1162G>T | XP_011528141.1:p.Val388Leu | |
| XM_011529840.3:c.1162G>T | XP_011528142.1:p.Val388Leu | |
| XM_011529842.2:c.832G>T | XP_011528144.1:p.Val278Leu | |
| XM_011529844.2:c.1162G>T | XP_011528146.1:p.Val388Leu | |
| XM_011529845.2:c.340G>T | XP_011528147.1:p.Val114Leu | |
| XM_017028560.1:c.1126G>T | XP_016884049.1:p.Val376Leu | |
| XM_017028561.2:c.340G>T | XP_016884050.1:p.Val114Leu | |
| XM_024452148.1:c.1033G>T | XP_024307916.1:p.Val345Leu | |
| XM_024452149.1:c.1033G>T | XP_024307917.1:p.Val345Leu | |
| XR_937805.2:n.1173G>T | ||
| XR_937806.2:n.1173G>T | ||
| XR_937807.2:n.1173G>T | ||
| NM_001005735.2:c.1132G>T | NP_001005735.1:p.Val378Leu | |
| NM_001257387.2:c.340G>T | NP_001244316.1:p.Val114Leu | |
| NM_001349956.2:c.802G>T | NP_001336885.1:p.Val268Leu |