Linked Data
ClinVar Variation Id:
1911713
ClinVar RCV Id:
RCV002597159
dbSNP Id:
rs375946591
ExAC:
X:53573566 A / C
gnomAD v2:
X-53573566-A-C
gnomAD v3:
X-53546605-A-C
gnomAD v4:
X-53546605-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53546605A>C , CM000685.2:g.53546605A>C | GRCh38 |
| NC_000023.10:g.53573566A>C , CM000685.1:g.53573566A>C | GRCh37 |
| NC_000023.9:g.53590291A>C | NCBI36 |
| NG_016261.2:g.145129T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.10756-13T>G | ENSP00000515693.1:n.10756-13T>G | |
| ENST00000262854.11:c.10759-13T>G MANE Select | ENSP00000262854.6:n.10759-13T>G | |
| ENST00000262854.10:c.10759-13T>G | ENSP00000262854.6:n.10759-13T>G | |
| ENST00000342160.7:c.10759-13T>G | ENSP00000340648.3:n.10759-13T>G | |
| ENST00000426907.5:c.1271-13T>G | ||
| ENST00000468322.2:c.260-13T>G | ||
| ENST00000474288.1:n.503-13T>G | ||
| ENST00000612484.4:c.10732-13T>G | ENSP00000479451.1:n.10732-13T>G | |
| NM_031407.6:c.10759-13T>G | NP_113584.3:n.10759-13T>G | |
| XM_005261965.2:c.10759-13T>G | XP_005262022.1:n.10759-13T>G | |
| XM_011530746.1:c.11008-13T>G | XP_011529048.1:n.11008-13T>G | |
| XM_011530747.1:c.11008-13T>G | XP_011529049.1:n.11008-13T>G | |
| XM_011530748.1:c.11008-13T>G | XP_011529050.1:n.11008-13T>G | |
| XM_011530749.1:c.11008-13T>G | XP_011529051.1:n.11008-13T>G | |
| XM_011530750.1:c.11008-13T>G | XP_011529052.1:n.11008-13T>G | |
| XM_011530751.1:c.11008-13T>G | XP_011529053.1:n.11008-13T>G | |
| XM_011530752.1:c.11005-13T>G | XP_011529054.1:n.11005-13T>G | |
| XM_011530753.1:c.11008-13T>G | XP_011529055.1:n.11008-13T>G | |
| XM_011530754.1:c.10960-13T>G | XP_011529056.1:n.10960-13T>G | |
| XM_011530755.1:c.10957-13T>G | XP_011529057.1:n.10957-13T>G | |
| XM_011530756.1:c.10909-13T>G | XP_011529058.1:n.10909-13T>G | |
| XM_011530757.1:c.10606-13T>G | XP_011529059.1:n.10606-13T>G | |
| XM_011530758.1:c.11008-13T>G | XP_011529060.1:n.11008-13T>G | |
| XR_938360.1:n.11443-13T>G | ||
| XM_005261965.4:c.10759-13T>G | XP_005262022.1:n.10759-13T>G | |
| XM_011530751.2:c.11008-13T>G | XP_011529053.1:n.11008-13T>G | |
| XM_017029191.1:c.11140-13T>G | XP_016884680.1:n.11140-13T>G | |
| XM_017029192.1:c.11137-13T>G | XP_016884681.1:n.11137-13T>G | |
| XM_017029193.1:c.11119-13T>G | XP_016884682.1:n.11119-13T>G | |
| XM_017029194.1:c.11140-13T>G | XP_016884683.1:n.11140-13T>G | |
| XM_017029195.1:c.11092-13T>G | XP_016884684.1:n.11092-13T>G | |
| XM_017029196.1:c.11089-13T>G | XP_016884685.1:n.11089-13T>G | |
| XM_017029197.1:c.11041-13T>G | XP_016884686.1:n.11041-13T>G | |
| XM_017029198.2:c.11029-13T>G | XP_016884687.1:n.11029-13T>G | |
| XM_017029199.1:c.11029-13T>G | XP_016884688.1:n.11029-13T>G | |
| XM_017029200.1:c.11029-13T>G | XP_016884689.1:n.11029-13T>G | |
| XM_017029201.1:c.11029-13T>G | XP_016884690.1:n.11029-13T>G | |
| XM_017029202.1:c.11029-13T>G | XP_016884691.1:n.11029-13T>G | |
| XM_017029203.1:c.11029-13T>G | XP_016884692.1:n.11029-13T>G | |
| XM_017029204.1:c.10891-13T>G | XP_016884693.1:n.10891-13T>G | |
| XM_017029206.1:c.10738-13T>G | XP_016884695.1:n.10738-13T>G | |
| XM_024452322.1:c.11008-13T>G | XP_024308090.1:n.11008-13T>G | |
| NM_031407.7:c.10759-13T>G MANE Select | NP_113584.3:n.10759-13T>G |