Linked Data
ClinVar Variation Id:
141818
ClinVar RCV Id:
RCV000130486
RCV000206869
RCV000222009
RCV001175336
RCV001270242
RCV001355927
RCV001787089
dbSNP Id:
rs200928781
ExAC:
22:29091788 T / G
gnomAD v2:
22-29091788-T-G
gnomAD v3:
22-28695800-T-G
gnomAD v4:
22-28695800-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695800T>G , CM000684.2:g.28695800T>G | GRCh38 |
| NC_000022.10:g.29091788T>G , CM000684.1:g.29091788T>G | GRCh37 |
| NC_000022.9:g.27421788T>G | NCBI36 |
| NG_008150.1:g.51035A>C | |
| NG_008150.2:g.51067A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.1009-558A>C | ENSP00000518557.1:n.1009-558A>C | |
| ENST00000402731.6:c.968A>C | ENSP00000384835.2:p.Tyr323Ser | |
| ENST00000404276.6:c.1169A>C MANE Select | ENSP00000385747.1:p.Tyr390Ser | |
| ENST00000425190.7:c.506A>C | ENSP00000390244.2:p.Tyr169Ser | |
| ENST00000464581.6:c.509A>C | ENSP00000483777.2:p.Tyr170Ser | |
| ENST00000648295.1:n.721A>C | ||
| ENST00000649563.1:c.506A>C | ENSP00000496928.1:p.Tyr169Ser | |
| ENST00000650281.1:c.1169A>C | ENSP00000497000.1:p.Tyr390Ser | |
| ENST00000328354.10:c.1169A>C | ENSP00000329178.6:p.Tyr390Ser | |
| ENST00000348295.7:c.1082A>C | ENSP00000329012.5:p.Tyr361Ser | |
| ENST00000382580.6:c.1298A>C | ENSP00000372023.2:p.Tyr433Ser | |
| ENST00000402731.5:c.1082A>C | ENSP00000384835.1:p.Tyr361Ser | |
| ENST00000403642.5:c.896A>C | ENSP00000384919.1:p.Tyr299Ser | |
| ENST00000404276.5:c.1169A>C | ENSP00000385747.1:p.Tyr390Ser | |
| ENST00000405598.5:c.1169A>C | ENSP00000386087.1:p.Tyr390Ser | |
| ENST00000416671.5:c.*659A>C | ENSP00000402225.1:n.*659A>C | |
| ENST00000417588.5:c.1078A>C | ENSP00000412901.1:n.1078A>C | |
| ENST00000433728.5:c.1107A>C | ENSP00000404400.1:n.1107A>C | |
| ENST00000434810.5:c.400A>C | ||
| ENST00000448511.5:c.1059A>C | ENSP00000404567.1:n.1059A>C | |
| ENST00000456369.5:c.263+4038A>C | ||
| NM_001005735.1:c.1298A>C | NP_001005735.1:p.Tyr433Ser | |
| NM_001257387.1:c.506A>C | NP_001244316.1:p.Tyr169Ser | |
| NM_007194.3:c.1169A>C | NP_009125.1:p.Tyr390Ser | |
| NM_145862.2:c.1082A>C | NP_665861.1:p.Tyr361Ser | |
| XM_006724114.2:c.689A>C | XP_006724177.1:p.Tyr230Ser | |
| XM_006724116.2:c.626A>C | XP_006724179.2:p.Tyr209Ser | |
| XM_011529839.1:c.1328A>C | XP_011528141.1:p.Tyr443Ser | |
| XM_011529840.1:c.1241A>C | XP_011528142.1:p.Tyr414Ser | |
| XM_011529841.1:c.1097A>C | XP_011528143.1:p.Tyr366Ser | |
| XM_011529842.1:c.998A>C | XP_011528144.1:p.Tyr333Ser | |
| XM_011529843.1:c.968A>C | XP_011528145.1:p.Tyr323Ser | |
| XM_011529845.1:c.506A>C | XP_011528147.1:p.Tyr169Ser | |
| XR_937805.1:n.1328A>C | ||
| XR_937806.1:n.1236A>C | ||
| NM_001349956.1:c.968A>C | NP_001336885.1:p.Tyr323Ser | |
| NM_007194.4:c.1169A>C MANE Select | NP_009125.1:p.Tyr390Ser | |
| XM_006724114.3:c.722A>C | XP_006724177.2:p.Tyr241Ser | |
| XM_011529839.2:c.1328A>C | XP_011528141.1:p.Tyr443Ser | |
| XM_011529840.3:c.1241A>C | XP_011528142.1:p.Tyr414Ser | |
| XM_011529842.2:c.998A>C | XP_011528144.1:p.Tyr333Ser | |
| XM_011529845.2:c.506A>C | XP_011528147.1:p.Tyr169Ser | |
| XM_017028560.1:c.1292A>C | XP_016884049.1:p.Tyr431Ser | |
| XM_017028561.2:c.506A>C | XP_016884050.1:p.Tyr169Ser | |
| XM_024452148.1:c.1199A>C | XP_024307916.1:p.Tyr400Ser | |
| XM_024452149.1:c.1112A>C | XP_024307917.1:p.Tyr371Ser | |
| XR_937805.2:n.1339A>C | ||
| XR_937806.2:n.1252A>C | ||
| NM_001005735.2:c.1298A>C | NP_001005735.1:p.Tyr433Ser | |
| NM_001257387.2:c.506A>C | NP_001244316.1:p.Tyr169Ser | |
| NM_001349956.2:c.968A>C | NP_001336885.1:p.Tyr323Ser |