Linked Data
dbSNP Id:
rs1556910115
gnomAD v2:
X-53561522-C-G
gnomAD v4:
X-53534561-C-G
MyVariant Identifiers:
chrX:g.53561522C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534561C>G , CM000685.2:g.53534561C>G | GRCh38 |
| NC_000023.10:g.53561522C>G , CM000685.1:g.53561522C>G | GRCh37 |
| NC_000023.9:g.53578247C>G | NCBI36 |
| NG_016261.2:g.157173G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12570G>C | ENSP00000515693.1:p.Leu4190= | |
| ENST00000262854.11:c.12786G>C MANE Select | ENSP00000262854.6:p.Leu4262= | |
| ENST00000262854.10:c.12786G>C | ENSP00000262854.6:p.Leu4262= | |
| ENST00000342160.7:c.12786G>C | ENSP00000340648.3:p.Leu4262= | |
| ENST00000426907.5:c.3253G>C | ||
| ENST00000488459.1:n.99G>C | ||
| ENST00000612484.4:c.12759G>C | ENSP00000479451.1:p.Leu4253= | |
| NM_031407.6:c.12786G>C | NP_113584.3:p.Leu4262= | |
| XM_005261965.2:c.12786G>C | XP_005262022.1:p.Leu4262= | |
| XM_011530746.1:c.13035G>C | XP_011529048.1:p.Leu4345= | |
| XM_011530747.1:c.13035G>C | XP_011529049.1:p.Leu4345= | |
| XM_011530748.1:c.13035G>C | XP_011529050.1:p.Leu4345= | |
| XM_011530749.1:c.13035G>C | XP_011529051.1:p.Leu4345= | |
| XM_011530750.1:c.13035G>C | XP_011529052.1:p.Leu4345= | |
| XM_011530751.1:c.13035G>C | XP_011529053.1:p.Leu4345= | |
| XM_011530752.1:c.13032G>C | XP_011529054.1:p.Leu4344= | |
| XM_011530753.1:c.12990G>C | XP_011529055.1:p.Leu4330= | |
| XM_011530754.1:c.12987G>C | XP_011529056.1:p.Leu4329= | |
| XM_011530755.1:c.12984G>C | XP_011529057.1:p.Leu4328= | |
| XM_011530756.1:c.12936G>C | XP_011529058.1:p.Leu4312= | |
| XM_011530757.1:c.12633G>C | XP_011529059.1:p.Leu4211= | |
| XM_005261965.4:c.12786G>C | XP_005262022.1:p.Leu4262= | |
| XM_011530751.2:c.13035G>C | XP_011529053.1:p.Leu4345= | |
| XM_017029191.1:c.13167G>C | XP_016884680.1:p.Leu4389= | |
| XM_017029192.1:c.13164G>C | XP_016884681.1:p.Leu4388= | |
| XM_017029193.1:c.13146G>C | XP_016884682.1:p.Leu4382= | |
| XM_017029194.1:c.13122G>C | XP_016884683.1:p.Leu4374= | |
| XM_017029195.1:c.13119G>C | XP_016884684.1:p.Leu4373= | |
| XM_017029196.1:c.13116G>C | XP_016884685.1:p.Leu4372= | |
| XM_017029197.1:c.13068G>C | XP_016884686.1:p.Leu4356= | |
| XM_017029198.2:c.13056G>C | XP_016884687.1:p.Leu4352= | |
| XM_017029199.1:c.13056G>C | XP_016884688.1:p.Leu4352= | |
| XM_017029200.1:c.13056G>C | XP_016884689.1:p.Leu4352= | |
| XM_017029201.1:c.13056G>C | XP_016884690.1:p.Leu4352= | |
| XM_017029202.1:c.13056G>C | XP_016884691.1:p.Leu4352= | |
| XM_017029203.1:c.13056G>C | XP_016884692.1:p.Leu4352= | |
| XM_017029204.1:c.12918G>C | XP_016884693.1:p.Leu4306= | |
| XM_017029206.1:c.12765G>C | XP_016884695.1:p.Leu4255= | |
| XM_024452322.1:c.13035G>C | XP_024308090.1:p.Leu4345= | |
| NM_031407.7:c.12786G>C MANE Select | NP_113584.3:p.Leu4262= |