Linked Data
ClinVar Variation Id:
182441
dbSNP Id:
rs587781960
ExAC:
22:29085152 A / T
gnomAD v2:
22-29085152-A-T
gnomAD v3:
22-28689164-A-T
gnomAD v4:
22-28689164-A-T
PubMed:
PMID:15942682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689164A>T , CM000684.2:g.28689164A>T | GRCh38 |
| NC_000022.10:g.29085152A>T , CM000684.1:g.29085152A>T | GRCh37 |
| NC_000022.9:g.27415152A>T | NCBI36 |
| NG_008150.1:g.57671T>A | |
| NG_008150.2:g.57703T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*248T>A | ENSP00000518557.1:n.*248T>A | |
| ENST00000402731.6:c.1312T>A | ENSP00000384835.2:p.Ser438Thr | |
| ENST00000404276.6:c.1513T>A MANE Select | ENSP00000385747.1:p.Ser505Thr | |
| ENST00000425190.7:c.850T>A | ENSP00000390244.2:p.Ser284Thr | |
| ENST00000464581.6:c.853T>A | ENSP00000483777.2:p.Ser285Thr | |
| ENST00000648295.1:n.1065T>A | ||
| ENST00000649563.1:c.850T>A | ENSP00000496928.1:p.Ser284Thr | |
| ENST00000650281.1:c.1513T>A | ENSP00000497000.1:p.Ser505Thr | |
| ENST00000328354.10:c.1513T>A | ENSP00000329178.6:p.Ser505Thr | |
| ENST00000348295.7:c.1426T>A | ENSP00000329012.5:p.Ser476Thr | |
| ENST00000382580.6:c.1642T>A | ENSP00000372023.2:p.Ser548Thr | |
| ENST00000402731.5:c.1426T>A | ENSP00000384835.1:p.Ser476Thr | |
| ENST00000403642.5:c.1240T>A | ENSP00000384919.1:p.Ser414Thr | |
| ENST00000404276.5:c.1513T>A | ENSP00000385747.1:p.Ser505Thr | |
| ENST00000405598.5:c.1513T>A | ENSP00000386087.1:p.Ser505Thr | |
| ENST00000416671.5:c.*1003T>A | ENSP00000402225.1:n.*1003T>A | |
| ENST00000417588.5:c.1422T>A | ENSP00000412901.1:n.1422T>A | |
| ENST00000433728.5:c.1451T>A | ENSP00000404400.1:n.1451T>A | |
| ENST00000434810.5:c.711T>A | ||
| ENST00000448511.5:c.1403T>A | ENSP00000404567.1:n.1403T>A | |
| ENST00000456369.5:c.315T>A | ||
| ENST00000472807.1:n.247T>A | ||
| NM_001005735.1:c.1642T>A | NP_001005735.1:p.Ser548Thr | |
| NM_001257387.1:c.850T>A | NP_001244316.1:p.Ser284Thr | |
| NM_007194.3:c.1513T>A | NP_009125.1:p.Ser505Thr | |
| NM_145862.2:c.1426T>A | NP_665861.1:p.Ser476Thr | |
| XM_006724114.2:c.1033T>A | XP_006724177.1:p.Ser345Thr | |
| XM_006724116.2:c.970T>A | XP_006724179.2:p.Ser324Thr | |
| XM_011529839.1:c.1672T>A | XP_011528141.1:p.Ser558Thr | |
| XM_011529840.1:c.1585T>A | XP_011528142.1:p.Ser529Thr | |
| XM_011529841.1:c.1441T>A | XP_011528143.1:p.Ser481Thr | |
| XM_011529842.1:c.1342T>A | XP_011528144.1:p.Ser448Thr | |
| XM_011529843.1:c.1312T>A | XP_011528145.1:p.Ser438Thr | |
| XM_011529845.1:c.850T>A | XP_011528147.1:p.Ser284Thr | |
| XR_937805.1:n.1672T>A | ||
| NM_001349956.1:c.1312T>A | NP_001336885.1:p.Ser438Thr | |
| NM_007194.4:c.1513T>A MANE Select | NP_009125.1:p.Ser505Thr | |
| XM_006724114.3:c.1066T>A | XP_006724177.2:p.Ser356Thr | |
| XM_011529839.2:c.1672T>A | XP_011528141.1:p.Ser558Thr | |
| XM_011529840.3:c.1585T>A | XP_011528142.1:p.Ser529Thr | |
| XM_011529842.2:c.1342T>A | XP_011528144.1:p.Ser448Thr | |
| XM_011529845.2:c.850T>A | XP_011528147.1:p.Ser284Thr | |
| XM_017028560.1:c.1636T>A | XP_016884049.1:p.Ser546Thr | |
| XM_017028561.2:c.850T>A | XP_016884050.1:p.Ser284Thr | |
| XM_024452148.1:c.1543T>A | XP_024307916.1:p.Ser515Thr | |
| XM_024452149.1:c.1456T>A | XP_024307917.1:p.Ser486Thr | |
| XR_937805.2:n.1683T>A | ||
| NM_001005735.2:c.1642T>A | NP_001005735.1:p.Ser548Thr | |
| NM_001257387.2:c.850T>A | NP_001244316.1:p.Ser284Thr | |
| NM_001349956.2:c.1312T>A | NP_001336885.1:p.Ser438Thr |