Linked Data
dbSNP Id:
rs1556909533
gnomAD v2:
X-53561176-T-C
gnomAD v4:
X-53534215-T-C
MyVariant Identifiers:
chrX:g.53561176T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534215T>C , CM000685.2:g.53534215T>C | GRCh38 |
| NC_000023.10:g.53561176T>C , CM000685.1:g.53561176T>C | GRCh37 |
| NC_000023.9:g.53577901T>C | NCBI36 |
| NG_016261.2:g.157519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12616-18A>G | ENSP00000515693.1:n.12616-18A>G | |
| ENST00000262854.11:c.12832-18A>G MANE Select | ENSP00000262854.6:n.12832-18A>G | |
| ENST00000262854.10:c.12832-18A>G | ENSP00000262854.6:n.12832-18A>G | |
| ENST00000342160.7:c.12832-18A>G | ENSP00000340648.3:n.12832-18A>G | |
| ENST00000426907.5:c.3299-18A>G | ||
| ENST00000488459.1:n.145-18A>G | ||
| ENST00000612484.4:c.12805-18A>G | ENSP00000479451.1:n.12805-18A>G | |
| NM_031407.6:c.12832-18A>G | NP_113584.3:n.12832-18A>G | |
| XM_005261965.2:c.12832-18A>G | XP_005262022.1:n.12832-18A>G | |
| XM_011530746.1:c.13081-18A>G | XP_011529048.1:n.13081-18A>G | |
| XM_011530747.1:c.13081-18A>G | XP_011529049.1:n.13081-18A>G | |
| XM_011530748.1:c.13081-18A>G | XP_011529050.1:n.13081-18A>G | |
| XM_011530749.1:c.13081-18A>G | XP_011529051.1:n.13081-18A>G | |
| XM_011530750.1:c.13081-18A>G | XP_011529052.1:n.13081-18A>G | |
| XM_011530751.1:c.13081-18A>G | XP_011529053.1:n.13081-18A>G | |
| XM_011530752.1:c.13078-18A>G | XP_011529054.1:n.13078-18A>G | |
| XM_011530753.1:c.13036-18A>G | XP_011529055.1:n.13036-18A>G | |
| XM_011530754.1:c.13033-18A>G | XP_011529056.1:n.13033-18A>G | |
| XM_011530755.1:c.13030-18A>G | XP_011529057.1:n.13030-18A>G | |
| XM_011530756.1:c.12982-18A>G | XP_011529058.1:n.12982-18A>G | |
| XM_011530757.1:c.12679-18A>G | XP_011529059.1:n.12679-18A>G | |
| XM_005261965.4:c.12832-18A>G | XP_005262022.1:n.12832-18A>G | |
| XM_011530751.2:c.13081-18A>G | XP_011529053.1:n.13081-18A>G | |
| XM_017029191.1:c.13213-18A>G | XP_016884680.1:n.13213-18A>G | |
| XM_017029192.1:c.13210-18A>G | XP_016884681.1:n.13210-18A>G | |
| XM_017029193.1:c.13192-18A>G | XP_016884682.1:n.13192-18A>G | |
| XM_017029194.1:c.13168-18A>G | XP_016884683.1:n.13168-18A>G | |
| XM_017029195.1:c.13165-18A>G | XP_016884684.1:n.13165-18A>G | |
| XM_017029196.1:c.13162-18A>G | XP_016884685.1:n.13162-18A>G | |
| XM_017029197.1:c.13114-18A>G | XP_016884686.1:n.13114-18A>G | |
| XM_017029198.2:c.13102-18A>G | XP_016884687.1:n.13102-18A>G | |
| XM_017029199.1:c.13102-18A>G | XP_016884688.1:n.13102-18A>G | |
| XM_017029200.1:c.13102-18A>G | XP_016884689.1:n.13102-18A>G | |
| XM_017029201.1:c.13102-18A>G | XP_016884690.1:n.13102-18A>G | |
| XM_017029202.1:c.13102-18A>G | XP_016884691.1:n.13102-18A>G | |
| XM_017029203.1:c.13102-18A>G | XP_016884692.1:n.13102-18A>G | |
| XM_017029204.1:c.12964-18A>G | XP_016884693.1:n.12964-18A>G | |
| XM_017029206.1:c.12811-18A>G | XP_016884695.1:n.12811-18A>G | |
| XM_024452322.1:c.13081-18A>G | XP_024308090.1:n.13081-18A>G | |
| NM_031407.7:c.12832-18A>G MANE Select | NP_113584.3:n.12832-18A>G |