ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28719486C>A , CM000684.2:g.28719486C>A | GRCh38 |
| NC_000022.10:g.29115474C>A , CM000684.1:g.29115474C>A | GRCh37 |
| NC_000022.9:g.27445474C>A | NCBI36 |
| NG_008150.1:g.27349G>T | |
| NG_008150.2:g.27381G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.592+5491G>T | ENSP00000396903.2:n.592+5491G>T | |
| ENST00000711048.1:c.593-1G>T | ENSP00000518557.1:n.593-1G>T | |
| ENST00000402731.6:c.482+5400G>T | ENSP00000384835.2:n.482+5400G>T | |
| ENST00000404276.6:c.593-1G>T MANE Select | ENSP00000385747.1:n.593-1G>T | |
| ENST00000425190.7:c.-71-1G>T | ENSP00000390244.2:n.-71-1G>T | |
| ENST00000649563.1:c.-71-1G>T | ENSP00000496928.1:n.-71-1G>T | |
| ENST00000650281.1:c.593-1G>T | ENSP00000497000.1:n.593-1G>T | |
| ENST00000328354.10:c.593-1G>T | ENSP00000329178.6:n.593-1G>T | |
| ENST00000348295.7:c.593-1G>T | ENSP00000329012.5:n.593-1G>T | |
| ENST00000382580.6:c.722-1G>T | ENSP00000372023.2:n.722-1G>T | |
| ENST00000402731.5:c.593-1G>T | ENSP00000384835.1:n.593-1G>T | |
| ENST00000403642.5:c.320-1G>T | ENSP00000384919.1:n.320-1G>T | |
| ENST00000404276.5:c.593-1G>T | ENSP00000385747.1:n.593-1G>T | |
| ENST00000405598.5:c.593-1G>T | ENSP00000386087.1:n.593-1G>T | |
| ENST00000416671.5:c.*83-1G>T | ENSP00000402225.1:n.*83-1G>T | |
| ENST00000417588.5:c.592+5491G>T | ENSP00000412901.1:n.592+5491G>T | |
| ENST00000425190.6:c.-71-1G>T | ENSP00000390244.1:n.-71-1G>T | |
| ENST00000433028.6:c.*318-1G>T | ENSP00000403659.1:n.*318-1G>T | |
| ENST00000433728.5:c.593-1G>T | ENSP00000404400.1:n.593-1G>T | |
| ENST00000439200.5:c.686-1G>T | ENSP00000408065.1:n.686-1G>T | |
| ENST00000439346.5:c.154+5491G>T | ENSP00000396903.1:n.154+5491G>T | |
| ENST00000447421.5:c.482+5400G>T | ENSP00000397478.2:n.482+5400G>T | |
| ENST00000448511.5:c.483-1G>T | ENSP00000404567.1:n.483-1G>T | |
| NM_001005735.1:c.722-1G>T | NP_001005735.1:n.722-1G>T | |
| NM_001257387.1:c.-71-1G>T | NP_001244316.1:n.-71-1G>T | |
| NM_007194.3:c.593-1G>T | NP_009125.1:n.593-1G>T | |
| NM_145862.2:c.593-1G>T | NP_665861.1:n.593-1G>T | |
| XM_011529839.1:c.752-1G>T | XP_011528141.1:n.752-1G>T | |
| XM_011529840.1:c.752-1G>T | XP_011528142.1:n.752-1G>T | |
| XM_011529841.1:c.611+5400G>T | XP_011528143.1:n.611+5400G>T | |
| XM_011529842.1:c.512+5400G>T | XP_011528144.1:n.512+5400G>T | |
| XM_011529843.1:c.482+5400G>T | XP_011528145.1:n.482+5400G>T | |
| XM_011529844.1:c.752-1G>T | XP_011528146.1:n.752-1G>T | |
| XM_011529845.1:c.-71-1G>T | XP_011528147.1:n.-71-1G>T | |
| XR_937805.1:n.814-1G>T | ||
| XR_937806.1:n.809-1G>T | ||
| XR_937807.1:n.809-1G>T | ||
| NM_001349956.1:c.482+5400G>T | NP_001336885.1:n.482+5400G>T | |
| NM_007194.4:c.593-1G>T MANE Select | NP_009125.1:n.593-1G>T | |
| XM_011529839.2:c.752-1G>T | XP_011528141.1:n.752-1G>T | |
| XM_011529840.3:c.752-1G>T | XP_011528142.1:n.752-1G>T | |
| XM_011529842.2:c.512+5400G>T | XP_011528144.1:n.512+5400G>T | |
| XM_011529844.2:c.752-1G>T | XP_011528146.1:n.752-1G>T | |
| XM_011529845.2:c.-71-1G>T | XP_011528147.1:n.-71-1G>T | |
| XM_017028560.1:c.716-1G>T | XP_016884049.1:n.716-1G>T | |
| XM_017028561.2:c.-71-1G>T | XP_016884050.1:n.-71-1G>T | |
| XM_024452148.1:c.623-1G>T | XP_024307916.1:n.623-1G>T | |
| XM_024452149.1:c.623-1G>T | XP_024307917.1:n.623-1G>T | |
| XR_937805.2:n.825-1G>T | ||
| XR_937806.2:n.825-1G>T | ||
| XR_937807.2:n.825-1G>T | ||
| NM_001005735.2:c.722-1G>T | NP_001005735.1:n.722-1G>T | |
| NM_001257387.2:c.-71-1G>T | NP_001244316.1:n.-71-1G>T | |
| NM_001349956.2:c.482+5400G>T | NP_001336885.1:n.482+5400G>T |