Linked Data
dbSNP Id:
rs1547014
gnomAD v2:
22-29100711-T-C
gnomAD v3:
22-28704723-T-C
gnomAD v4:
22-28704723-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28704723T>C , CM000684.2:g.28704723T>C | GRCh38 |
| NC_000022.10:g.29100711T>C , CM000684.1:g.29100711T>C | GRCh37 |
| NC_000022.9:g.27430711T>C | NCBI36 |
| NG_008150.1:g.42112A>G | |
| NG_008150.2:g.42144A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.756-1157A>G | ENSP00000396903.2:n.756-1157A>G | |
| ENST00000711048.1:c.847-1157A>G | ENSP00000518557.1:n.847-1157A>G | |
| ENST00000402731.6:c.646-1157A>G | ENSP00000384835.2:n.646-1157A>G | |
| ENST00000404276.6:c.847-1157A>G MANE Select | ENSP00000385747.1:n.847-1157A>G | |
| ENST00000425190.7:c.184-1157A>G | ENSP00000390244.2:n.184-1157A>G | |
| ENST00000464581.6:c.187-1157A>G | ENSP00000483777.2:n.187-1157A>G | |
| ENST00000648295.1:n.399-1157A>G | ||
| ENST00000649563.1:c.184-1157A>G | ENSP00000496928.1:n.184-1157A>G | |
| ENST00000650281.1:c.847-1157A>G | ENSP00000497000.1:n.847-1157A>G | |
| ENST00000328354.10:c.847-1157A>G | ENSP00000329178.6:n.847-1157A>G | |
| ENST00000348295.7:c.847-1157A>G | ENSP00000329012.5:n.847-1157A>G | |
| ENST00000382580.6:c.976-1157A>G | ENSP00000372023.2:n.976-1157A>G | |
| ENST00000402731.5:c.847-1157A>G | ENSP00000384835.1:n.847-1157A>G | |
| ENST00000403642.5:c.574-1157A>G | ENSP00000384919.1:n.574-1157A>G | |
| ENST00000404276.5:c.847-1157A>G | ENSP00000385747.1:n.847-1157A>G | |
| ENST00000405598.5:c.847-1157A>G | ENSP00000386087.1:n.847-1157A>G | |
| ENST00000416671.5:c.*337-1157A>G | ENSP00000402225.1:n.*337-1157A>G | |
| ENST00000417588.5:c.756-1157A>G | ENSP00000412901.1:n.756-1157A>G | |
| ENST00000425190.6:c.184-1157A>G | ENSP00000390244.1:n.184-1157A>G | |
| ENST00000433028.6:c.*572-1157A>G | ENSP00000403659.1:n.*572-1157A>G | |
| ENST00000433728.5:c.847-4786A>G | ENSP00000404400.1:n.847-4786A>G | |
| ENST00000434810.5:c.78-1157A>G | ||
| ENST00000439346.5:c.318-1157A>G | ENSP00000396903.1:n.318-1157A>G | |
| ENST00000447421.5:c.646-1157A>G | ENSP00000397478.2:n.646-1157A>G | |
| ENST00000448511.5:c.737-1157A>G | ENSP00000404567.1:n.737-1157A>G | |
| ENST00000456369.5:c.102-1157A>G | ||
| ENST00000464581.5:c.187-1157A>G | ENSP00000483777.1:n.187-1157A>G | |
| ENST00000491919.5:n.404-1157A>G | ||
| NM_001005735.1:c.976-1157A>G | NP_001005735.1:n.976-1157A>G | |
| NM_001257387.1:c.184-1157A>G | NP_001244316.1:n.184-1157A>G | |
| NM_007194.3:c.847-1157A>G | NP_009125.1:n.847-1157A>G | |
| NM_145862.2:c.847-1157A>G | NP_665861.1:n.847-1157A>G | |
| XM_006724114.2:c.367-1157A>G | XP_006724177.1:n.367-1157A>G | |
| XM_006724116.2:c.304-1157A>G | XP_006724179.2:n.304-1157A>G | |
| XM_011529839.1:c.1006-1157A>G | XP_011528141.1:n.1006-1157A>G | |
| XM_011529840.1:c.1006-1157A>G | XP_011528142.1:n.1006-1157A>G | |
| XM_011529841.1:c.775-1157A>G | XP_011528143.1:n.775-1157A>G | |
| XM_011529842.1:c.676-1157A>G | XP_011528144.1:n.676-1157A>G | |
| XM_011529843.1:c.646-1157A>G | XP_011528145.1:n.646-1157A>G | |
| XM_011529844.1:c.1006-1157A>G | XP_011528146.1:n.1006-1157A>G | |
| XM_011529845.1:c.184-1157A>G | XP_011528147.1:n.184-1157A>G | |
| XR_937805.1:n.1068-4786A>G | ||
| XR_937806.1:n.1063-4786A>G | ||
| XR_937807.1:n.1063-4786A>G | ||
| NM_001349956.1:c.646-1157A>G | NP_001336885.1:n.646-1157A>G | |
| NM_007194.4:c.847-1157A>G MANE Select | NP_009125.1:n.847-1157A>G | |
| XM_006724114.3:c.400-1157A>G | XP_006724177.2:n.400-1157A>G | |
| XM_011529839.2:c.1006-1157A>G | XP_011528141.1:n.1006-1157A>G | |
| XM_011529840.3:c.1006-1157A>G | XP_011528142.1:n.1006-1157A>G | |
| XM_011529842.2:c.676-1157A>G | XP_011528144.1:n.676-1157A>G | |
| XM_011529844.2:c.1006-1157A>G | XP_011528146.1:n.1006-1157A>G | |
| XM_011529845.2:c.184-1157A>G | XP_011528147.1:n.184-1157A>G | |
| XM_017028560.1:c.970-1157A>G | XP_016884049.1:n.970-1157A>G | |
| XM_017028561.2:c.184-1157A>G | XP_016884050.1:n.184-1157A>G | |
| XM_024452148.1:c.877-1157A>G | XP_024307916.1:n.877-1157A>G | |
| XM_024452149.1:c.877-1157A>G | XP_024307917.1:n.877-1157A>G | |
| XR_937805.2:n.1079-4786A>G | ||
| XR_937806.2:n.1079-4786A>G | ||
| XR_937807.2:n.1079-4786A>G | ||
| NM_001005735.2:c.976-1157A>G | NP_001005735.1:n.976-1157A>G | |
| NM_001257387.2:c.184-1157A>G | NP_001244316.1:n.184-1157A>G | |
| NM_001349956.2:c.646-1157A>G | NP_001336885.1:n.646-1157A>G |