Linked Data
ClinVar Variation Id:
208404
ClinVar RCV Id:
RCV000202348
dbSNP Id:
rs863223357
gnomAD v2:
22-32021757-C-T
gnomAD v3:
22-31625771-C-T
gnomAD v4:
22-31625771-C-T
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31625771C>T , CM000684.2:g.31625771C>T | GRCh38 |
| NC_000022.10:g.32021757C>T , CM000684.1:g.32021757C>T | GRCh37 |
| NC_000022.9:g.30351757C>T | NCBI36 |
| NG_050741.1:g.41794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439502.7:c.322-3886G>A MANE Select | ENSP00000391739.2:n.322-3886G>A | |
| ENST00000266095.9:c.45G>A | ENSP00000266095.5:p.Ala15= | |
| ENST00000382151.6:c.45G>A | ENSP00000371586.2:p.Ala15= | |
| ENST00000397500.5:c.45G>A | ENSP00000380637.1:p.Ala15= | |
| ENST00000422020.5:c.45G>A | ENSP00000412169.1:p.Ala15= | |
| ENST00000429683.1:c.45G>A | ENSP00000396002.1:p.Ala15= | |
| ENST00000431201.5:c.45G>A | ENSP00000401606.1:p.Ala15= | |
| ENST00000435900.5:c.294-3886G>A | ||
| ENST00000437808.5:c.*71-3886G>A | ENSP00000396500.1:n.*71-3886G>A | |
| ENST00000439502.6:c.322-3886G>A | ENSP00000391739.2:n.322-3886G>A | |
| ENST00000442379.1:c.45G>A | ENSP00000399818.1:p.Ala15= | |
| ENST00000460723.5:n.329-3886G>A | ||
| ENST00000473770.5:n.60-1922G>A | ||
| ENST00000474017.5:n.317-3886G>A | ||
| ENST00000478893.5:n.16G>A | ||
| ENST00000491342.1:n.34-3886G>A | ||
| NM_014338.3:c.45G>A | NP_055153.1:p.Ala15= | |
| XM_005261455.1:c.322-3886G>A | XP_005261512.1:n.322-3886G>A | |
| XM_005261456.1:c.45G>A | XP_005261513.1:p.Ala15= | |
| XM_005261457.3:c.45G>A | XP_005261514.1:p.Ala15= | |
| XM_005261458.1:c.45G>A | XP_005261515.1:p.Ala15= | |
| XM_005261459.1:c.45G>A | XP_005261516.1:p.Ala15= | |
| XM_005261460.3:c.45G>A | XP_005261517.1:p.Ala15= | |
| XM_005261461.3:c.45G>A | XP_005261518.1:p.Ala15= | |
| XM_005261462.3:c.-52-1922G>A | XP_005261519.1:n.-52-1922G>A | |
| XM_006724199.1:c.93-1922G>A | XP_006724262.1:n.93-1922G>A | |
| XM_006724200.2:c.45G>A | XP_006724263.1:p.Ala15= | |
| XM_006724201.2:c.45G>A | XP_006724264.1:p.Ala15= | |
| XM_006724202.2:c.45G>A | XP_006724265.1:p.Ala15= | |
| XM_011530053.1:c.45G>A | XP_011528355.1:p.Ala15= | |
| XM_011530054.1:c.45G>A | XP_011528356.1:p.Ala15= | |
| XM_011530055.1:c.45G>A | XP_011528357.1:p.Ala15= | |
| XM_011530056.1:c.-6G>A | XP_011528358.1:n.-6G>A | |
| NM_001326411.1:c.322-3886G>A | NP_001313340.1:n.322-3886G>A | |
| NM_001326412.1:c.322-3949G>A | NP_001313341.1:n.322-3949G>A | |
| NM_001326413.1:c.93-1922G>A | NP_001313342.1:n.93-1922G>A | |
| NM_001326414.1:c.93-1922G>A | NP_001313343.1:n.93-1922G>A | |
| NM_001326415.1:c.45G>A | NP_001313344.1:p.Ala15= | |
| NM_001326416.1:c.45G>A | NP_001313345.1:p.Ala15= | |
| NM_001326417.1:c.45G>A | NP_001313346.1:p.Ala15= | |
| NM_001326418.1:c.142-3886G>A | NP_001313347.1:n.142-3886G>A | |
| NM_001326419.1:c.45G>A | NP_001313348.1:p.Ala15= | |
| NM_001326420.1:c.142-3886G>A | NP_001313349.1:n.142-3886G>A | |
| NM_001326421.1:c.322-3886G>A | NP_001313350.1:n.322-3886G>A | |
| NM_178022.1:c.45G>A | NP_821141.1:p.Ala15= | |
| NM_001326413.2:c.93-1922G>A | NP_001313342.1:n.93-1922G>A | |
| NM_001326414.2:c.93-1922G>A | NP_001313343.1:n.93-1922G>A | |
| NM_001326415.2:c.45G>A | NP_001313344.1:p.Ala15= | |
| NM_001326416.2:c.45G>A | NP_001313345.1:p.Ala15= | |
| NM_001326417.2:c.45G>A | NP_001313346.1:p.Ala15= | |
| NM_001326418.2:c.142-3886G>A | NP_001313347.1:n.142-3886G>A | |
| NM_001326419.2:c.45G>A | NP_001313348.1:p.Ala15= | |
| NM_001326420.2:c.142-3886G>A | NP_001313349.1:n.142-3886G>A | |
| NM_178022.2:c.45G>A | NP_821141.1:p.Ala15= | |
| NM_014338.4:c.45G>A | NP_055153.1:p.Ala15= | |
| NM_001326411.2:c.322-3886G>A MANE Select | NP_001313340.1:n.322-3886G>A |