MyVariant.info:
GRCh38
chrX:g.114584109C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82111636 (EAS)
Genomes Max Group AF
0.82106806 (EAS)
Exomes Max Group AF
0.40253309 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114584109C>G , CM000685.2:g.114584109C>G | GRCh38 |
| NG_012082.2:g.5025C>G | |
| NG_012082.3:g.5025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276198.6:c.-697C>G MANE Select | ENSP00000276198.1:n.-697C>G | |
| ENST00000276198.5:c.-697C>G | ENSP00000276198.1:n.-697C>G | |
| ENST00000371950.3:c.-697C>G | ENSP00000361018.3:n.-697C>G | |
| ENST00000371951.5:c.-788C>G | ENSP00000361019.1:n.-788C>G | |
| NM_000868.3:c.-697C>G | NP_000859.1:n.-697C>G | |
| NM_001256760.2:c.-788C>G | NP_001243689.1:n.-788C>G | |
| NM_001256761.2:c.-697C>G | NP_001243690.1:n.-697C>G | |
| NM_000868.4:c.-697C>G MANE Select | NP_000859.2:n.-697C>G | |
| NM_001256760.3:c.-788C>G | NP_001243689.2:n.-788C>G | |
| NM_001256761.3:c.-697C>G | NP_001243690.2:n.-697C>G |