Linked Data
ClinVar Variation Id:
279766
dbSNP Id:
rs201544715
ExAC:
22:29095826 C / T
gnomAD v2:
22-29095826-C-T
gnomAD v3:
22-28699838-C-T
gnomAD v4:
22-28699838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699838C>T , CM000684.2:g.28699838C>T | GRCh38 |
| NC_000022.10:g.29095826C>T , CM000684.1:g.29095826C>T | GRCh37 |
| NC_000022.9:g.27425826C>T | NCBI36 |
| NG_008150.1:g.46997G>A | |
| NG_008150.2:g.47029G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.917G>A | ENSP00000396903.2:n.917G>A | |
| ENST00000711048.1:c.1008G>A | ENSP00000518557.1:p.Gln336= | |
| ENST00000402731.6:c.807G>A | ENSP00000384835.2:p.Gln269= | |
| ENST00000404276.6:c.1008G>A MANE Select | ENSP00000385747.1:p.Gln336= | |
| ENST00000425190.7:c.345G>A | ENSP00000390244.2:p.Gln115= | |
| ENST00000464581.6:c.348G>A | ENSP00000483777.2:p.Gln116= | |
| ENST00000648295.1:n.560G>A | ||
| ENST00000649563.1:c.345G>A | ENSP00000496928.1:p.Gln115= | |
| ENST00000650281.1:c.1008G>A | ENSP00000497000.1:p.Gln336= | |
| ENST00000328354.10:c.1008G>A | ENSP00000329178.6:p.Gln336= | |
| ENST00000348295.7:c.1008G>A | ENSP00000329012.5:p.Gln336= | |
| ENST00000382580.6:c.1137G>A | ENSP00000372023.2:p.Gln379= | |
| ENST00000402731.5:c.1008G>A | ENSP00000384835.1:p.Gln336= | |
| ENST00000403642.5:c.735G>A | ENSP00000384919.1:p.Gln245= | |
| ENST00000404276.5:c.1008G>A | ENSP00000385747.1:p.Gln336= | |
| ENST00000405598.5:c.1008G>A | ENSP00000386087.1:p.Gln336= | |
| ENST00000416671.5:c.*498G>A | ENSP00000402225.1:n.*498G>A | |
| ENST00000417588.5:c.917G>A | ENSP00000412901.1:n.917G>A | |
| ENST00000425190.6:c.345G>A | ENSP00000390244.1:p.Gln115= | |
| ENST00000433028.6:c.*733G>A | ENSP00000403659.1:n.*733G>A | |
| ENST00000433728.5:c.946G>A | ENSP00000404400.1:n.946G>A | |
| ENST00000434810.5:c.239G>A | ||
| ENST00000439346.5:c.479G>A | ENSP00000396903.1:n.479G>A | |
| ENST00000447421.5:c.807G>A | ENSP00000397478.2:p.Gln269= | |
| ENST00000448511.5:c.898G>A | ENSP00000404567.1:n.898G>A | |
| ENST00000456369.5:c.263G>A | ||
| ENST00000464581.5:c.348G>A | ENSP00000483777.1:p.Gln116= | |
| ENST00000491919.5:n.565G>A | ||
| NM_001005735.1:c.1137G>A | NP_001005735.1:p.Gln379= | |
| NM_001257387.1:c.345G>A | NP_001244316.1:p.Gln115= | |
| NM_007194.3:c.1008G>A | NP_009125.1:p.Gln336= | |
| NM_145862.2:c.1008G>A | NP_665861.1:p.Gln336= | |
| XM_006724114.2:c.528G>A | XP_006724177.1:p.Gln176= | |
| XM_006724116.2:c.465G>A | XP_006724179.2:p.Gln155= | |
| XM_011529839.1:c.1167G>A | XP_011528141.1:p.Gln389= | |
| XM_011529840.1:c.1167G>A | XP_011528142.1:p.Gln389= | |
| XM_011529841.1:c.936G>A | XP_011528143.1:p.Gln312= | |
| XM_011529842.1:c.837G>A | XP_011528144.1:p.Gln279= | |
| XM_011529843.1:c.807G>A | XP_011528145.1:p.Gln269= | |
| XM_011529844.1:c.1167G>A | XP_011528146.1:p.Gln389= | |
| XM_011529845.1:c.345G>A | XP_011528147.1:p.Gln115= | |
| XR_937805.1:n.1167G>A | ||
| XR_937806.1:n.1162G>A | ||
| XR_937807.1:n.1162G>A | ||
| NM_001349956.1:c.807G>A | NP_001336885.1:p.Gln269= | |
| NM_007194.4:c.1008G>A MANE Select | NP_009125.1:p.Gln336= | |
| XM_006724114.3:c.561G>A | XP_006724177.2:p.Gln187= | |
| XM_011529839.2:c.1167G>A | XP_011528141.1:p.Gln389= | |
| XM_011529840.3:c.1167G>A | XP_011528142.1:p.Gln389= | |
| XM_011529842.2:c.837G>A | XP_011528144.1:p.Gln279= | |
| XM_011529844.2:c.1167G>A | XP_011528146.1:p.Gln389= | |
| XM_011529845.2:c.345G>A | XP_011528147.1:p.Gln115= | |
| XM_017028560.1:c.1131G>A | XP_016884049.1:p.Gln377= | |
| XM_017028561.2:c.345G>A | XP_016884050.1:p.Gln115= | |
| XM_024452148.1:c.1038G>A | XP_024307916.1:p.Gln346= | |
| XM_024452149.1:c.1038G>A | XP_024307917.1:p.Gln346= | |
| XR_937805.2:n.1178G>A | ||
| XR_937806.2:n.1178G>A | ||
| XR_937807.2:n.1178G>A | ||
| NM_001005735.2:c.1137G>A | NP_001005735.1:p.Gln379= | |
| NM_001257387.2:c.345G>A | NP_001244316.1:p.Gln115= | |
| NM_001349956.2:c.807G>A | NP_001336885.1:p.Gln269= |