Linked Data
ClinVar Variation Id:
216641
dbSNP Id:
rs863224747
gnomAD v3:
22-28695250-T-C
gnomAD v4:
22-28695250-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695250T>C , CM000684.2:g.28695250T>C | GRCh38 |
| NC_000022.10:g.29091238T>C , CM000684.1:g.29091238T>C | GRCh37 |
| NC_000022.9:g.27421238T>C | NCBI36 |
| NG_008150.1:g.51585A>G | |
| NG_008150.2:g.51617A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-8A>G | ENSP00000518557.1:n.1009-8A>G | |
| ENST00000402731.6:c.1059-8A>G | ENSP00000384835.2:n.1059-8A>G | |
| ENST00000404276.6:c.1260-8A>G MANE Select | ENSP00000385747.1:n.1260-8A>G | |
| ENST00000425190.7:c.597-8A>G | ENSP00000390244.2:n.597-8A>G | |
| ENST00000464581.6:c.600-8A>G | ENSP00000483777.2:n.600-8A>G | |
| ENST00000648295.1:n.812-8A>G | ||
| ENST00000649563.1:c.597-8A>G | ENSP00000496928.1:n.597-8A>G | |
| ENST00000650281.1:c.1260-8A>G | ENSP00000497000.1:n.1260-8A>G | |
| ENST00000328354.10:c.1260-8A>G | ENSP00000329178.6:n.1260-8A>G | |
| ENST00000348295.7:c.1173-8A>G | ENSP00000329012.5:n.1173-8A>G | |
| ENST00000382580.6:c.1389-8A>G | ENSP00000372023.2:n.1389-8A>G | |
| ENST00000402731.5:c.1173-8A>G | ENSP00000384835.1:n.1173-8A>G | |
| ENST00000403642.5:c.987-8A>G | ENSP00000384919.1:n.987-8A>G | |
| ENST00000404276.5:c.1260-8A>G | ENSP00000385747.1:n.1260-8A>G | |
| ENST00000405598.5:c.1260-8A>G | ENSP00000386087.1:n.1260-8A>G | |
| ENST00000416671.5:c.*750-8A>G | ENSP00000402225.1:n.*750-8A>G | |
| ENST00000417588.5:c.1169-8A>G | ENSP00000412901.1:n.1169-8A>G | |
| ENST00000433728.5:c.1198-8A>G | ENSP00000404400.1:n.1198-8A>G | |
| ENST00000434810.5:c.491-41A>G | ||
| ENST00000448511.5:c.1150-8A>G | ENSP00000404567.1:n.1150-8A>G | |
| ENST00000456369.5:c.263+4588A>G | ||
| NM_001005735.1:c.1389-8A>G | NP_001005735.1:n.1389-8A>G | |
| NM_001257387.1:c.597-8A>G | NP_001244316.1:n.597-8A>G | |
| NM_007194.3:c.1260-8A>G | NP_009125.1:n.1260-8A>G | |
| NM_145862.2:c.1173-8A>G | NP_665861.1:n.1173-8A>G | |
| XM_006724114.2:c.780-8A>G | XP_006724177.1:n.780-8A>G | |
| XM_006724116.2:c.717-8A>G | XP_006724179.2:n.717-8A>G | |
| XM_011529839.1:c.1419-8A>G | XP_011528141.1:n.1419-8A>G | |
| XM_011529840.1:c.1332-8A>G | XP_011528142.1:n.1332-8A>G | |
| XM_011529841.1:c.1188-8A>G | XP_011528143.1:n.1188-8A>G | |
| XM_011529842.1:c.1089-8A>G | XP_011528144.1:n.1089-8A>G | |
| XM_011529843.1:c.1059-8A>G | XP_011528145.1:n.1059-8A>G | |
| XM_011529845.1:c.597-8A>G | XP_011528147.1:n.597-8A>G | |
| XR_937805.1:n.1419-8A>G | ||
| NM_001349956.1:c.1059-8A>G | NP_001336885.1:n.1059-8A>G | |
| NM_007194.4:c.1260-8A>G MANE Select | NP_009125.1:n.1260-8A>G | |
| XM_006724114.3:c.813-8A>G | XP_006724177.2:n.813-8A>G | |
| XM_011529839.2:c.1419-8A>G | XP_011528141.1:n.1419-8A>G | |
| XM_011529840.3:c.1332-8A>G | XP_011528142.1:n.1332-8A>G | |
| XM_011529842.2:c.1089-8A>G | XP_011528144.1:n.1089-8A>G | |
| XM_011529845.2:c.597-8A>G | XP_011528147.1:n.597-8A>G | |
| XM_017028560.1:c.1383-8A>G | XP_016884049.1:n.1383-8A>G | |
| XM_017028561.2:c.597-8A>G | XP_016884050.1:n.597-8A>G | |
| XM_024452148.1:c.1290-8A>G | XP_024307916.1:n.1290-8A>G | |
| XM_024452149.1:c.1203-8A>G | XP_024307917.1:n.1203-8A>G | |
| XR_937805.2:n.1430-8A>G | ||
| NM_001005735.2:c.1389-8A>G | NP_001005735.1:n.1389-8A>G | |
| NM_001257387.2:c.597-8A>G | NP_001244316.1:n.597-8A>G | |
| NM_001349956.2:c.1059-8A>G | NP_001336885.1:n.1059-8A>G |