Linked Data
ClinVar Variation Id:
449667
dbSNP Id:
rs763344790
ExAC:
22:29090075 A / G
gnomAD v2:
22-29090075-A-G
gnomAD v4:
22-28694087-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694087A>G , CM000684.2:g.28694087A>G | GRCh38 |
| NC_000022.10:g.29090075A>G , CM000684.1:g.29090075A>G | GRCh37 |
| NC_000022.9:g.27420075A>G | NCBI36 |
| NG_008150.1:g.52748T>C | |
| NG_008150.2:g.52780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*141T>C | ENSP00000518557.1:n.*141T>C | |
| ENST00000402731.6:c.1205T>C | ENSP00000384835.2:p.Val402Ala | |
| ENST00000404276.6:c.1406T>C MANE Select | ENSP00000385747.1:p.Val469Ala | |
| ENST00000425190.7:c.743T>C | ENSP00000390244.2:p.Val248Ala | |
| ENST00000464581.6:c.746T>C | ENSP00000483777.2:p.Val249Ala | |
| ENST00000648295.1:n.958T>C | ||
| ENST00000649563.1:c.743T>C | ENSP00000496928.1:p.Val248Ala | |
| ENST00000650281.1:c.1406T>C | ENSP00000497000.1:p.Val469Ala | |
| ENST00000328354.10:c.1406T>C | ENSP00000329178.6:p.Val469Ala | |
| ENST00000348295.7:c.1319T>C | ENSP00000329012.5:p.Val440Ala | |
| ENST00000382580.6:c.1535T>C | ENSP00000372023.2:p.Val512Ala | |
| ENST00000402731.5:c.1319T>C | ENSP00000384835.1:p.Val440Ala | |
| ENST00000403642.5:c.1133T>C | ENSP00000384919.1:p.Val378Ala | |
| ENST00000404276.5:c.1406T>C | ENSP00000385747.1:p.Val469Ala | |
| ENST00000405598.5:c.1406T>C | ENSP00000386087.1:p.Val469Ala | |
| ENST00000416671.5:c.*896T>C | ENSP00000402225.1:n.*896T>C | |
| ENST00000417588.5:c.1315T>C | ENSP00000412901.1:n.1315T>C | |
| ENST00000433728.5:c.1344T>C | ENSP00000404400.1:n.1344T>C | |
| ENST00000434810.5:c.604T>C | ||
| ENST00000448511.5:c.1296T>C | ENSP00000404567.1:n.1296T>C | |
| ENST00000456369.5:c.264-4872T>C | ||
| NM_001005735.1:c.1535T>C | NP_001005735.1:p.Val512Ala | |
| NM_001257387.1:c.743T>C | NP_001244316.1:p.Val248Ala | |
| NM_007194.3:c.1406T>C | NP_009125.1:p.Val469Ala | |
| NM_145862.2:c.1319T>C | NP_665861.1:p.Val440Ala | |
| XM_006724114.2:c.926T>C | XP_006724177.1:p.Val309Ala | |
| XM_006724116.2:c.863T>C | XP_006724179.2:p.Val288Ala | |
| XM_011529839.1:c.1565T>C | XP_011528141.1:p.Val522Ala | |
| XM_011529840.1:c.1478T>C | XP_011528142.1:p.Val493Ala | |
| XM_011529841.1:c.1334T>C | XP_011528143.1:p.Val445Ala | |
| XM_011529842.1:c.1235T>C | XP_011528144.1:p.Val412Ala | |
| XM_011529843.1:c.1205T>C | XP_011528145.1:p.Val402Ala | |
| XM_011529845.1:c.743T>C | XP_011528147.1:p.Val248Ala | |
| XR_937805.1:n.1565T>C | ||
| NM_001349956.1:c.1205T>C | NP_001336885.1:p.Val402Ala | |
| NM_007194.4:c.1406T>C MANE Select | NP_009125.1:p.Val469Ala | |
| XM_006724114.3:c.959T>C | XP_006724177.2:p.Val320Ala | |
| XM_011529839.2:c.1565T>C | XP_011528141.1:p.Val522Ala | |
| XM_011529840.3:c.1478T>C | XP_011528142.1:p.Val493Ala | |
| XM_011529842.2:c.1235T>C | XP_011528144.1:p.Val412Ala | |
| XM_011529845.2:c.743T>C | XP_011528147.1:p.Val248Ala | |
| XM_017028560.1:c.1529T>C | XP_016884049.1:p.Val510Ala | |
| XM_017028561.2:c.743T>C | XP_016884050.1:p.Val248Ala | |
| XM_024452148.1:c.1436T>C | XP_024307916.1:p.Val479Ala | |
| XM_024452149.1:c.1349T>C | XP_024307917.1:p.Val450Ala | |
| XR_937805.2:n.1576T>C | ||
| NM_001005735.2:c.1535T>C | NP_001005735.1:p.Val512Ala | |
| NM_001257387.2:c.743T>C | NP_001244316.1:p.Val248Ala | |
| NM_001349956.2:c.1205T>C | NP_001336885.1:p.Val402Ala |