Linked Data
ClinVar Variation Id:
1906015
ClinVar RCV Id:
RCV002583942
dbSNP Id:
rs782786640
ExAC:
X:53570934 G / A
gnomAD v2:
X-53570934-G-A
gnomAD v3:
X-53543973-G-A
gnomAD v4:
X-53543973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53543973G>A , CM000685.2:g.53543973G>A | GRCh38 |
| NC_000023.10:g.53570934G>A , CM000685.1:g.53570934G>A | GRCh37 |
| NC_000023.9:g.53587659G>A | NCBI36 |
| NG_016261.2:g.147761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.11249-5C>T | ENSP00000515693.1:n.11249-5C>T | |
| ENST00000262854.11:c.11252-5C>T MANE Select | ENSP00000262854.6:n.11252-5C>T | |
| ENST00000262854.10:c.11252-5C>T | ENSP00000262854.6:n.11252-5C>T | |
| ENST00000342160.7:c.11252-5C>T | ENSP00000340648.3:n.11252-5C>T | |
| ENST00000426907.5:c.1764-5C>T | ||
| ENST00000468322.2:c.550-5C>T | ||
| ENST00000474288.1:n.996-5C>T | ||
| ENST00000612484.4:c.11225-5C>T | ENSP00000479451.1:n.11225-5C>T | |
| NM_031407.6:c.11252-5C>T | NP_113584.3:n.11252-5C>T | |
| XM_005261965.2:c.11252-5C>T | XP_005262022.1:n.11252-5C>T | |
| XM_011530746.1:c.11501-5C>T | XP_011529048.1:n.11501-5C>T | |
| XM_011530747.1:c.11501-5C>T | XP_011529049.1:n.11501-5C>T | |
| XM_011530748.1:c.11501-5C>T | XP_011529050.1:n.11501-5C>T | |
| XM_011530749.1:c.11501-5C>T | XP_011529051.1:n.11501-5C>T | |
| XM_011530750.1:c.11501-5C>T | XP_011529052.1:n.11501-5C>T | |
| XM_011530751.1:c.11501-5C>T | XP_011529053.1:n.11501-5C>T | |
| XM_011530752.1:c.11498-5C>T | XP_011529054.1:n.11498-5C>T | |
| XM_011530753.1:c.11501-5C>T | XP_011529055.1:n.11501-5C>T | |
| XM_011530754.1:c.11453-5C>T | XP_011529056.1:n.11453-5C>T | |
| XM_011530755.1:c.11450-5C>T | XP_011529057.1:n.11450-5C>T | |
| XM_011530756.1:c.11402-5C>T | XP_011529058.1:n.11402-5C>T | |
| XM_011530757.1:c.11099-5C>T | XP_011529059.1:n.11099-5C>T | |
| XM_011530758.1:c.11298-5C>T | XP_011529060.1:n.11298-5C>T | |
| XR_938360.1:n.11733-5C>T | ||
| XM_005261965.4:c.11252-5C>T | XP_005262022.1:n.11252-5C>T | |
| XM_011530751.2:c.11501-5C>T | XP_011529053.1:n.11501-5C>T | |
| XM_017029191.1:c.11633-5C>T | XP_016884680.1:n.11633-5C>T | |
| XM_017029192.1:c.11630-5C>T | XP_016884681.1:n.11630-5C>T | |
| XM_017029193.1:c.11612-5C>T | XP_016884682.1:n.11612-5C>T | |
| XM_017029194.1:c.11633-5C>T | XP_016884683.1:n.11633-5C>T | |
| XM_017029195.1:c.11585-5C>T | XP_016884684.1:n.11585-5C>T | |
| XM_017029196.1:c.11582-5C>T | XP_016884685.1:n.11582-5C>T | |
| XM_017029197.1:c.11534-5C>T | XP_016884686.1:n.11534-5C>T | |
| XM_017029198.2:c.11522-5C>T | XP_016884687.1:n.11522-5C>T | |
| XM_017029199.1:c.11522-5C>T | XP_016884688.1:n.11522-5C>T | |
| XM_017029200.1:c.11522-5C>T | XP_016884689.1:n.11522-5C>T | |
| XM_017029201.1:c.11522-5C>T | XP_016884690.1:n.11522-5C>T | |
| XM_017029202.1:c.11522-5C>T | XP_016884691.1:n.11522-5C>T | |
| XM_017029203.1:c.11522-5C>T | XP_016884692.1:n.11522-5C>T | |
| XM_017029204.1:c.11384-5C>T | XP_016884693.1:n.11384-5C>T | |
| XM_017029206.1:c.11231-5C>T | XP_016884695.1:n.11231-5C>T | |
| XM_024452322.1:c.11501-5C>T | XP_024308090.1:n.11501-5C>T | |
| NM_031407.7:c.11252-5C>T MANE Select | NP_113584.3:n.11252-5C>T |