Linked Data
ClinVar Variation Id:
220179
dbSNP Id:
rs145324174
ExAC:
22:29091803 C / T
gnomAD v2:
22-29091803-C-T
gnomAD v3:
22-28695815-C-T
gnomAD v4:
22-28695815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695815C>T , CM000684.2:g.28695815C>T | GRCh38 |
| NC_000022.10:g.29091803C>T , CM000684.1:g.29091803C>T | GRCh37 |
| NC_000022.9:g.27421803C>T | NCBI36 |
| NG_008150.1:g.51020G>A | |
| NG_008150.2:g.51052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-573G>A | ENSP00000518557.1:n.1009-573G>A | |
| ENST00000402731.6:c.953G>A | ENSP00000384835.2:p.Cys318Tyr | |
| ENST00000404276.6:c.1154G>A MANE Select | ENSP00000385747.1:p.Cys385Tyr | |
| ENST00000425190.7:c.491G>A | ENSP00000390244.2:p.Cys164Tyr | |
| ENST00000464581.6:c.494G>A | ENSP00000483777.2:p.Cys165Tyr | |
| ENST00000648295.1:n.706G>A | ||
| ENST00000649563.1:c.491G>A | ENSP00000496928.1:p.Cys164Tyr | |
| ENST00000650281.1:c.1154G>A | ENSP00000497000.1:p.Cys385Tyr | |
| ENST00000328354.10:c.1154G>A | ENSP00000329178.6:p.Cys385Tyr | |
| ENST00000348295.7:c.1067G>A | ENSP00000329012.5:p.Cys356Tyr | |
| ENST00000382580.6:c.1283G>A | ENSP00000372023.2:p.Cys428Tyr | |
| ENST00000402731.5:c.1067G>A | ENSP00000384835.1:p.Cys356Tyr | |
| ENST00000403642.5:c.881G>A | ENSP00000384919.1:p.Cys294Tyr | |
| ENST00000404276.5:c.1154G>A | ENSP00000385747.1:p.Cys385Tyr | |
| ENST00000405598.5:c.1154G>A | ENSP00000386087.1:p.Cys385Tyr | |
| ENST00000416671.5:c.*644G>A | ENSP00000402225.1:n.*644G>A | |
| ENST00000417588.5:c.1063G>A | ENSP00000412901.1:n.1063G>A | |
| ENST00000433728.5:c.1092G>A | ENSP00000404400.1:n.1092G>A | |
| ENST00000434810.5:c.385G>A | ||
| ENST00000448511.5:c.1044G>A | ENSP00000404567.1:n.1044G>A | |
| ENST00000456369.5:c.263+4023G>A | ||
| NM_001005735.1:c.1283G>A | NP_001005735.1:p.Cys428Tyr | |
| NM_001257387.1:c.491G>A | NP_001244316.1:p.Cys164Tyr | |
| NM_007194.3:c.1154G>A | NP_009125.1:p.Cys385Tyr | |
| NM_145862.2:c.1067G>A | NP_665861.1:p.Cys356Tyr | |
| XM_006724114.2:c.674G>A | XP_006724177.1:p.Cys225Tyr | |
| XM_006724116.2:c.611G>A | XP_006724179.2:p.Cys204Tyr | |
| XM_011529839.1:c.1313G>A | XP_011528141.1:p.Cys438Tyr | |
| XM_011529840.1:c.1226G>A | XP_011528142.1:p.Cys409Tyr | |
| XM_011529841.1:c.1082G>A | XP_011528143.1:p.Cys361Tyr | |
| XM_011529842.1:c.983G>A | XP_011528144.1:p.Cys328Tyr | |
| XM_011529843.1:c.953G>A | XP_011528145.1:p.Cys318Tyr | |
| XM_011529845.1:c.491G>A | XP_011528147.1:p.Cys164Tyr | |
| XR_937805.1:n.1313G>A | ||
| XR_937806.1:n.1221G>A | ||
| NM_001349956.1:c.953G>A | NP_001336885.1:p.Cys318Tyr | |
| NM_007194.4:c.1154G>A MANE Select | NP_009125.1:p.Cys385Tyr | |
| XM_006724114.3:c.707G>A | XP_006724177.2:p.Cys236Tyr | |
| XM_011529839.2:c.1313G>A | XP_011528141.1:p.Cys438Tyr | |
| XM_011529840.3:c.1226G>A | XP_011528142.1:p.Cys409Tyr | |
| XM_011529842.2:c.983G>A | XP_011528144.1:p.Cys328Tyr | |
| XM_011529845.2:c.491G>A | XP_011528147.1:p.Cys164Tyr | |
| XM_017028560.1:c.1277G>A | XP_016884049.1:p.Cys426Tyr | |
| XM_017028561.2:c.491G>A | XP_016884050.1:p.Cys164Tyr | |
| XM_024452148.1:c.1184G>A | XP_024307916.1:p.Cys395Tyr | |
| XM_024452149.1:c.1097G>A | XP_024307917.1:p.Cys366Tyr | |
| XR_937805.2:n.1324G>A | ||
| XR_937806.2:n.1237G>A | ||
| NM_001005735.2:c.1283G>A | NP_001005735.1:p.Cys428Tyr | |
| NM_001257387.2:c.491G>A | NP_001244316.1:p.Cys164Tyr | |
| NM_001349956.2:c.953G>A | NP_001336885.1:p.Cys318Tyr |