Linked Data
ClinVar Variation Id:
182457
dbSNP Id:
rs730881705
ExAC:
22:29092960 C / T
gnomAD v2:
22-29092960-C-T
gnomAD v3:
22-28696972-C-T
gnomAD v4:
22-28696972-C-T
PubMed:
PMID:18306035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696972C>T , CM000684.2:g.28696972C>T | GRCh38 |
| NC_000022.10:g.29092960C>T , CM000684.1:g.29092960C>T | GRCh37 |
| NC_000022.9:g.27422960C>T | NCBI36 |
| NG_008150.1:g.49863G>A | |
| NG_008150.2:g.49895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1730G>A | ENSP00000518557.1:n.1009-1730G>A | |
| ENST00000402731.6:c.823G>A | ENSP00000384835.2:p.Gly275Ser | |
| ENST00000404276.6:c.1024G>A MANE Select | ENSP00000385747.1:p.Gly342Ser | |
| ENST00000425190.7:c.361G>A | ENSP00000390244.2:p.Gly121Ser | |
| ENST00000464581.6:c.364G>A | ENSP00000483777.2:p.Gly122Ser | |
| ENST00000648295.1:n.576G>A | ||
| ENST00000649563.1:c.361G>A | ENSP00000496928.1:p.Gly121Ser | |
| ENST00000650281.1:c.1024G>A | ENSP00000497000.1:p.Gly342Ser | |
| ENST00000328354.10:c.1024G>A | ENSP00000329178.6:p.Gly342Ser | |
| ENST00000348295.7:c.1009-1099G>A | ENSP00000329012.5:n.1009-1099G>A | |
| ENST00000382580.6:c.1153G>A | ENSP00000372023.2:p.Gly385Ser | |
| ENST00000402731.5:c.1009-1099G>A | ENSP00000384835.1:n.1009-1099G>A | |
| ENST00000403642.5:c.751G>A | ENSP00000384919.1:p.Gly251Ser | |
| ENST00000404276.5:c.1024G>A | ENSP00000385747.1:p.Gly342Ser | |
| ENST00000405598.5:c.1024G>A | ENSP00000386087.1:p.Gly342Ser | |
| ENST00000416671.5:c.*514G>A | ENSP00000402225.1:n.*514G>A | |
| ENST00000417588.5:c.933G>A | ENSP00000412901.1:n.933G>A | |
| ENST00000425190.6:c.361G>A | ENSP00000390244.1:p.Gly121Ser | |
| ENST00000433028.6:c.*749G>A | ENSP00000403659.1:n.*749G>A | |
| ENST00000433728.5:c.962G>A | ENSP00000404400.1:n.962G>A | |
| ENST00000434810.5:c.255G>A | ||
| ENST00000447421.5:c.823G>A | ENSP00000397478.2:p.Gly275Ser | |
| ENST00000448511.5:c.914G>A | ENSP00000404567.1:n.914G>A | |
| ENST00000456369.5:c.263+2866G>A | ||
| ENST00000464581.5:c.364G>A | ENSP00000483777.1:p.Gly122Ser | |
| ENST00000491919.5:n.581G>A | ||
| NM_001005735.1:c.1153G>A | NP_001005735.1:p.Gly385Ser | |
| NM_001257387.1:c.361G>A | NP_001244316.1:p.Gly121Ser | |
| NM_007194.3:c.1024G>A | NP_009125.1:p.Gly342Ser | |
| NM_145862.2:c.1009-1099G>A | NP_665861.1:n.1009-1099G>A | |
| XM_006724114.2:c.544G>A | XP_006724177.1:p.Gly182Ser | |
| XM_006724116.2:c.481G>A | XP_006724179.2:p.Gly161Ser | |
| XM_011529839.1:c.1183G>A | XP_011528141.1:p.Gly395Ser | |
| XM_011529840.1:c.1168-1099G>A | XP_011528142.1:n.1168-1099G>A | |
| XM_011529841.1:c.952G>A | XP_011528143.1:p.Gly318Ser | |
| XM_011529842.1:c.853G>A | XP_011528144.1:p.Gly285Ser | |
| XM_011529843.1:c.823G>A | XP_011528145.1:p.Gly275Ser | |
| XM_011529845.1:c.361G>A | XP_011528147.1:p.Gly121Ser | |
| XR_937805.1:n.1183G>A | ||
| XR_937806.1:n.1163-1099G>A | ||
| NM_001349956.1:c.823G>A | NP_001336885.1:p.Gly275Ser | |
| NM_007194.4:c.1024G>A MANE Select | NP_009125.1:p.Gly342Ser | |
| XM_006724114.3:c.577G>A | XP_006724177.2:p.Gly193Ser | |
| XM_011529839.2:c.1183G>A | XP_011528141.1:p.Gly395Ser | |
| XM_011529840.3:c.1168-1099G>A | XP_011528142.1:n.1168-1099G>A | |
| XM_011529842.2:c.853G>A | XP_011528144.1:p.Gly285Ser | |
| XM_011529845.2:c.361G>A | XP_011528147.1:p.Gly121Ser | |
| XM_017028560.1:c.1147G>A | XP_016884049.1:p.Gly383Ser | |
| XM_017028561.2:c.361G>A | XP_016884050.1:p.Gly121Ser | |
| XM_024452148.1:c.1054G>A | XP_024307916.1:p.Gly352Ser | |
| XM_024452149.1:c.1039-1099G>A | XP_024307917.1:n.1039-1099G>A | |
| XR_937805.2:n.1194G>A | ||
| XR_937806.2:n.1179-1099G>A | ||
| NM_001005735.2:c.1153G>A | NP_001005735.1:p.Gly385Ser | |
| NM_001257387.2:c.361G>A | NP_001244316.1:p.Gly121Ser | |
| NM_001349956.2:c.823G>A | NP_001336885.1:p.Gly275Ser |