Linked Data
ClinVar Variation Id:
496341
dbSNP Id:
rs121908707
gnomAD v3:
22-28695709-C-T
gnomAD v4:
22-28695709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695709C>T , CM000684.2:g.28695709C>T | GRCh38 |
| NC_000022.10:g.29091697C>T , CM000684.1:g.29091697C>T | GRCh37 |
| NC_000022.9:g.27421697C>T | NCBI36 |
| NG_008150.1:g.51126G>A | |
| NG_008150.2:g.51158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-467G>A | ENSP00000518557.1:n.1009-467G>A | |
| ENST00000402731.6:c.1058+1G>A | ENSP00000384835.2:n.1058+1G>A | |
| ENST00000404276.6:c.1259+1G>A MANE Select | ENSP00000385747.1:n.1259+1G>A | |
| ENST00000425190.7:c.596+1G>A | ENSP00000390244.2:n.596+1G>A | |
| ENST00000464581.6:c.599+1G>A | ENSP00000483777.2:n.599+1G>A | |
| ENST00000648295.1:n.811+1G>A | ||
| ENST00000649563.1:c.596+1G>A | ENSP00000496928.1:n.596+1G>A | |
| ENST00000650281.1:c.1259+1G>A | ENSP00000497000.1:n.1259+1G>A | |
| ENST00000328354.10:c.1259+1G>A | ENSP00000329178.6:n.1259+1G>A | |
| ENST00000348295.7:c.1172+1G>A | ENSP00000329012.5:n.1172+1G>A | |
| ENST00000382580.6:c.1388+1G>A | ENSP00000372023.2:n.1388+1G>A | |
| ENST00000402731.5:c.1172+1G>A | ENSP00000384835.1:n.1172+1G>A | |
| ENST00000403642.5:c.986+1G>A | ENSP00000384919.1:n.986+1G>A | |
| ENST00000404276.5:c.1259+1G>A | ENSP00000385747.1:n.1259+1G>A | |
| ENST00000405598.5:c.1259+1G>A | ENSP00000386087.1:n.1259+1G>A | |
| ENST00000416671.5:c.*749+1G>A | ENSP00000402225.1:n.*749+1G>A | |
| ENST00000417588.5:c.1168+1G>A | ENSP00000412901.1:n.1168+1G>A | |
| ENST00000433728.5:c.1197+1G>A | ENSP00000404400.1:n.1197+1G>A | |
| ENST00000434810.5:c.490+1G>A | ||
| ENST00000448511.5:c.1149+1G>A | ENSP00000404567.1:n.1149+1G>A | |
| ENST00000456369.5:c.263+4129G>A | ||
| NM_001005735.1:c.1388+1G>A | NP_001005735.1:n.1388+1G>A | |
| NM_001257387.1:c.596+1G>A | NP_001244316.1:n.596+1G>A | |
| NM_007194.3:c.1259+1G>A | NP_009125.1:n.1259+1G>A | |
| NM_145862.2:c.1172+1G>A | NP_665861.1:n.1172+1G>A | |
| XM_006724114.2:c.779+1G>A | XP_006724177.1:n.779+1G>A | |
| XM_006724116.2:c.716+1G>A | XP_006724179.2:n.716+1G>A | |
| XM_011529839.1:c.1418+1G>A | XP_011528141.1:n.1418+1G>A | |
| XM_011529840.1:c.1331+1G>A | XP_011528142.1:n.1331+1G>A | |
| XM_011529841.1:c.1187+1G>A | XP_011528143.1:n.1187+1G>A | |
| XM_011529842.1:c.1088+1G>A | XP_011528144.1:n.1088+1G>A | |
| XM_011529843.1:c.1058+1G>A | XP_011528145.1:n.1058+1G>A | |
| XM_011529845.1:c.596+1G>A | XP_011528147.1:n.596+1G>A | |
| XR_937805.1:n.1418+1G>A | ||
| NM_001349956.1:c.1058+1G>A | NP_001336885.1:n.1058+1G>A | |
| NM_007194.4:c.1259+1G>A MANE Select | NP_009125.1:n.1259+1G>A | |
| XM_006724114.3:c.812+1G>A | XP_006724177.2:n.812+1G>A | |
| XM_011529839.2:c.1418+1G>A | XP_011528141.1:n.1418+1G>A | |
| XM_011529840.3:c.1331+1G>A | XP_011528142.1:n.1331+1G>A | |
| XM_011529842.2:c.1088+1G>A | XP_011528144.1:n.1088+1G>A | |
| XM_011529845.2:c.596+1G>A | XP_011528147.1:n.596+1G>A | |
| XM_017028560.1:c.1382+1G>A | XP_016884049.1:n.1382+1G>A | |
| XM_017028561.2:c.596+1G>A | XP_016884050.1:n.596+1G>A | |
| XM_024452148.1:c.1289+1G>A | XP_024307916.1:n.1289+1G>A | |
| XM_024452149.1:c.1202+1G>A | XP_024307917.1:n.1202+1G>A | |
| XR_937805.2:n.1429+1G>A | ||
| NM_001005735.2:c.1388+1G>A | NP_001005735.1:n.1388+1G>A | |
| NM_001257387.2:c.596+1G>A | NP_001244316.1:n.596+1G>A | |
| NM_001349956.2:c.1058+1G>A | NP_001336885.1:n.1058+1G>A |