Linked Data
dbSNP Id:
rs750784094
ExAC:
X:70775032 A / G
gnomAD v2:
X-70775032-A-G
gnomAD v3:
X-71555182-A-G
gnomAD v4:
X-71555182-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71555182A>G , CM000685.2:g.71555182A>G | GRCh38 |
| NC_000023.10:g.70775032A>G , CM000685.1:g.70775032A>G | GRCh37 |
| NC_000023.9:g.70691757A>G | NCBI36 |
| NG_015875.1:g.27121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699749.1:c.660-8A>G | ENSP00000514559.1:n.660-8A>G | |
| ENST00000699750.1:c.*588-8A>G | ENSP00000514560.1:n.*588-8A>G | |
| ENST00000699751.1:n.1278+590A>G | ||
| ENST00000699779.1:c.*3597-8A>G | ENSP00000514585.1:n.*3597-8A>G | |
| ENST00000699780.1:c.728+590A>G | ENSP00000514586.1:n.728+590A>G | |
| ENST00000699781.1:c.*332+590A>G | ENSP00000514587.1:n.*332+590A>G | |
| ENST00000699782.1:c.630-8A>G | ENSP00000514588.1:n.630-8A>G | |
| ENST00000699783.1:c.699-8A>G | ENSP00000514589.1:n.699-8A>G | |
| ENST00000699784.1:c.699-8A>G | ENSP00000514590.1:n.699-8A>G | |
| ENST00000699785.1:c.*734-8A>G | ENSP00000514591.1:n.*734-8A>G | |
| ENST00000373719.8:c.729-8A>G MANE Select | ENSP00000362824.3:n.729-8A>G | |
| ENST00000373701.7:c.699-8A>G | ENSP00000362805.3:n.699-8A>G | |
| ENST00000373719.7:c.729-8A>G | ENSP00000362824.3:n.729-8A>G | |
| ENST00000455587.3:n.608-8A>G | ||
| ENST00000459760.1:n.106-8A>G | ||
| ENST00000488174.5:n.4165+590A>G | ||
| NM_181672.2:c.729-8A>G | NP_858058.1:n.729-8A>G | |
| NM_181673.2:c.699-8A>G | NP_858059.1:n.699-8A>G | |
| XM_005262308.1:c.-220+590A>G | XP_005262365.1:n.-220+590A>G | |
| XM_017029908.1:c.-220+590A>G | XP_016885397.1:n.-220+590A>G | |
| XM_024452467.1:c.-220+590A>G | XP_024308235.1:n.-220+590A>G | |
| NM_181672.3:c.729-8A>G MANE Select | NP_858058.1:n.729-8A>G | |
| NM_181673.3:c.699-8A>G | NP_858059.1:n.699-8A>G |