Linked Data
ClinVar Variation Id:
142361
dbSNP Id:
rs138040612
ExAC:
22:29083935 C / T
gnomAD v2:
22-29083935-C-T
gnomAD v3:
22-28687947-C-T
gnomAD v4:
22-28687947-C-T
PubMed:
PMID:23960188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28687947C>T , CM000684.2:g.28687947C>T | GRCh38 |
| NC_000022.10:g.29083935C>T , CM000684.1:g.29083935C>T | GRCh37 |
| NC_000022.9:g.27413935C>T | NCBI36 |
| NG_008150.1:g.58888G>A | |
| NG_008150.2:g.58920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*317G>A | ENSP00000518557.1:n.*317G>A | |
| ENST00000402731.6:c.1381G>A | ENSP00000384835.2:p.Glu461Lys | |
| ENST00000404276.6:c.1582G>A MANE Select | ENSP00000385747.1:p.Glu528Lys | |
| ENST00000425190.7:c.919G>A | ENSP00000390244.2:p.Glu307Lys | |
| ENST00000464581.6:c.922G>A | ENSP00000483777.2:p.Glu308Lys | |
| ENST00000648295.1:n.1134G>A | ||
| ENST00000649563.1:c.919G>A | ENSP00000496928.1:p.Glu307Lys | |
| ENST00000650281.1:c.1582G>A | ENSP00000497000.1:p.Glu528Lys | |
| ENST00000328354.10:c.1582G>A | ENSP00000329178.6:p.Glu528Lys | |
| ENST00000348295.7:c.1495G>A | ENSP00000329012.5:p.Glu499Lys | |
| ENST00000382580.6:c.1711G>A | ENSP00000372023.2:p.Glu571Lys | |
| ENST00000402731.5:c.1495G>A | ENSP00000384835.1:p.Glu499Lys | |
| ENST00000403642.5:c.1309G>A | ENSP00000384919.1:p.Glu437Lys | |
| ENST00000404276.5:c.1582G>A | ENSP00000385747.1:p.Glu528Lys | |
| ENST00000405598.5:c.1582G>A | ENSP00000386087.1:p.Glu528Lys | |
| ENST00000416671.5:c.*1072G>A | ENSP00000402225.1:n.*1072G>A | |
| ENST00000417588.5:c.1491G>A | ENSP00000412901.1:n.1491G>A | |
| ENST00000433728.5:c.1520G>A | ENSP00000404400.1:n.1520G>A | |
| ENST00000434810.5:c.780G>A | ||
| ENST00000448511.5:c.1472G>A | ENSP00000404567.1:n.1472G>A | |
| ENST00000456369.5:c.384G>A | ||
| ENST00000472807.1:n.316G>A | ||
| NM_001005735.1:c.1711G>A | NP_001005735.1:p.Glu571Lys | |
| NM_001257387.1:c.919G>A | NP_001244316.1:p.Glu307Lys | |
| NM_007194.3:c.1582G>A | NP_009125.1:p.Glu528Lys | |
| NM_145862.2:c.1495G>A | NP_665861.1:p.Glu499Lys | |
| XM_006724114.2:c.1102G>A | XP_006724177.1:p.Glu368Lys | |
| XM_006724116.2:c.1039G>A | XP_006724179.2:p.Glu347Lys | |
| XM_011529839.1:c.1741G>A | XP_011528141.1:p.Glu581Lys | |
| XM_011529840.1:c.1654G>A | XP_011528142.1:p.Glu552Lys | |
| XM_011529841.1:c.1510G>A | XP_011528143.1:p.Glu504Lys | |
| XM_011529842.1:c.1411G>A | XP_011528144.1:p.Glu471Lys | |
| XM_011529843.1:c.1381G>A | XP_011528145.1:p.Glu461Lys | |
| XM_011529845.1:c.919G>A | XP_011528147.1:p.Glu307Lys | |
| XR_937805.1:n.1741G>A | ||
| NM_001349956.1:c.1381G>A | NP_001336885.1:p.Glu461Lys | |
| NM_007194.4:c.1582G>A MANE Select | NP_009125.1:p.Glu528Lys | |
| XM_006724114.3:c.1135G>A | XP_006724177.2:p.Glu379Lys | |
| XM_011529839.2:c.1741G>A | XP_011528141.1:p.Glu581Lys | |
| XM_011529840.3:c.1654G>A | XP_011528142.1:p.Glu552Lys | |
| XM_011529842.2:c.1411G>A | XP_011528144.1:p.Glu471Lys | |
| XM_011529845.2:c.919G>A | XP_011528147.1:p.Glu307Lys | |
| XM_017028560.1:c.1705G>A | XP_016884049.1:p.Glu569Lys | |
| XM_017028561.2:c.919G>A | XP_016884050.1:p.Glu307Lys | |
| XM_024452148.1:c.1612G>A | XP_024307916.1:p.Glu538Lys | |
| XM_024452149.1:c.1525G>A | XP_024307917.1:p.Glu509Lys | |
| XR_937805.2:n.1752G>A | ||
| NM_001005735.2:c.1711G>A | NP_001005735.1:p.Glu571Lys | |
| NM_001257387.2:c.919G>A | NP_001244316.1:p.Glu307Lys | |
| NM_001349956.2:c.1381G>A | NP_001336885.1:p.Glu461Lys |