Linked Data
ClinVar Variation Id:
740714
ClinVar RCV Id:
RCV000916808
dbSNP Id:
rs1602465094
MyVariant Identifiers:
chrX:g.53560994T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534033T>G , CM000685.2:g.53534033T>G | GRCh38 |
| NC_000023.10:g.53560994T>G , CM000685.1:g.53560994T>G | GRCh37 |
| NC_000023.9:g.53577719T>G | NCBI36 |
| NG_016261.2:g.157701A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12780A>C | ENSP00000515693.1:p.Thr4260= | |
| ENST00000262854.11:c.12996A>C MANE Select | ENSP00000262854.6:p.Thr4332= | |
| ENST00000262854.10:c.12996A>C | ENSP00000262854.6:p.Thr4332= | |
| ENST00000342160.7:c.12996A>C | ENSP00000340648.3:p.Thr4332= | |
| ENST00000426907.5:c.3463A>C | ||
| ENST00000488459.1:n.309A>C | ||
| ENST00000612484.4:c.12969A>C | ENSP00000479451.1:p.Thr4323= | |
| NM_031407.6:c.12996A>C | NP_113584.3:p.Thr4332= | |
| XM_005261965.2:c.12996A>C | XP_005262022.1:p.Thr4332= | |
| XM_011530746.1:c.13245A>C | XP_011529048.1:p.Thr4415= | |
| XM_011530747.1:c.13245A>C | XP_011529049.1:p.Thr4415= | |
| XM_011530748.1:c.13245A>C | XP_011529050.1:p.Thr4415= | |
| XM_011530749.1:c.13245A>C | XP_011529051.1:p.Thr4415= | |
| XM_011530750.1:c.13245A>C | XP_011529052.1:p.Thr4415= | |
| XM_011530751.1:c.13245A>C | XP_011529053.1:p.Thr4415= | |
| XM_011530752.1:c.13242A>C | XP_011529054.1:p.Thr4414= | |
| XM_011530753.1:c.13200A>C | XP_011529055.1:p.Thr4400= | |
| XM_011530754.1:c.13197A>C | XP_011529056.1:p.Thr4399= | |
| XM_011530755.1:c.13194A>C | XP_011529057.1:p.Thr4398= | |
| XM_011530756.1:c.13146A>C | XP_011529058.1:p.Thr4382= | |
| XM_011530757.1:c.12843A>C | XP_011529059.1:p.Thr4281= | |
| XM_005261965.4:c.12996A>C | XP_005262022.1:p.Thr4332= | |
| XM_011530751.2:c.13245A>C | XP_011529053.1:p.Thr4415= | |
| XM_017029191.1:c.13377A>C | XP_016884680.1:p.Thr4459= | |
| XM_017029192.1:c.13374A>C | XP_016884681.1:p.Thr4458= | |
| XM_017029193.1:c.13356A>C | XP_016884682.1:p.Thr4452= | |
| XM_017029194.1:c.13332A>C | XP_016884683.1:p.Thr4444= | |
| XM_017029195.1:c.13329A>C | XP_016884684.1:p.Thr4443= | |
| XM_017029196.1:c.13326A>C | XP_016884685.1:p.Thr4442= | |
| XM_017029197.1:c.13278A>C | XP_016884686.1:p.Thr4426= | |
| XM_017029198.2:c.13266A>C | XP_016884687.1:p.Thr4422= | |
| XM_017029199.1:c.13266A>C | XP_016884688.1:p.Thr4422= | |
| XM_017029200.1:c.13266A>C | XP_016884689.1:p.Thr4422= | |
| XM_017029201.1:c.13266A>C | XP_016884690.1:p.Thr4422= | |
| XM_017029202.1:c.13266A>C | XP_016884691.1:p.Thr4422= | |
| XM_017029203.1:c.13266A>C | XP_016884692.1:p.Thr4422= | |
| XM_017029204.1:c.13128A>C | XP_016884693.1:p.Thr4376= | |
| XM_017029206.1:c.12975A>C | XP_016884695.1:p.Thr4325= | |
| XM_024452322.1:c.13245A>C | XP_024308090.1:p.Thr4415= | |
| NM_031407.7:c.12996A>C MANE Select | NP_113584.3:p.Thr4332= |