Linked Data
ClinVar Variation Id:
717131
dbSNP Id:
rs186915283
ExAC:
X:53564508 G / A
gnomAD v2:
X-53564508-G-A
gnomAD v3:
X-53537547-G-A
gnomAD v4:
X-53537547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53537547G>A , CM000685.2:g.53537547G>A | GRCh38 |
| NC_000023.10:g.53564508G>A , CM000685.1:g.53564508G>A | GRCh37 |
| NC_000023.9:g.53581233G>A | NCBI36 |
| NG_016261.2:g.154187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.11921+9C>T | ENSP00000515693.1:n.11921+9C>T | |
| ENST00000262854.11:c.12137+9C>T MANE Select | ENSP00000262854.6:n.12137+9C>T | |
| ENST00000262854.10:c.12137+9C>T | ENSP00000262854.6:n.12137+9C>T | |
| ENST00000342160.7:c.12137+9C>T | ENSP00000340648.3:n.12137+9C>T | |
| ENST00000426907.5:c.2604+9C>T | ||
| ENST00000480438.1:n.281C>T | ||
| ENST00000612484.4:c.12110+9C>T | ENSP00000479451.1:n.12110+9C>T | |
| NM_031407.6:c.12137+9C>T | NP_113584.3:n.12137+9C>T | |
| XM_005261965.2:c.12137+9C>T | XP_005262022.1:n.12137+9C>T | |
| XM_011530746.1:c.12386+9C>T | XP_011529048.1:n.12386+9C>T | |
| XM_011530747.1:c.12386+9C>T | XP_011529049.1:n.12386+9C>T | |
| XM_011530748.1:c.12386+9C>T | XP_011529050.1:n.12386+9C>T | |
| XM_011530749.1:c.12386+9C>T | XP_011529051.1:n.12386+9C>T | |
| XM_011530750.1:c.12386+9C>T | XP_011529052.1:n.12386+9C>T | |
| XM_011530751.1:c.12386+9C>T | XP_011529053.1:n.12386+9C>T | |
| XM_011530752.1:c.12383+9C>T | XP_011529054.1:n.12383+9C>T | |
| XM_011530753.1:c.12341+9C>T | XP_011529055.1:n.12341+9C>T | |
| XM_011530754.1:c.12338+9C>T | XP_011529056.1:n.12338+9C>T | |
| XM_011530755.1:c.12335+9C>T | XP_011529057.1:n.12335+9C>T | |
| XM_011530756.1:c.12287+9C>T | XP_011529058.1:n.12287+9C>T | |
| XM_011530757.1:c.11984+9C>T | XP_011529059.1:n.11984+9C>T | |
| XM_005261965.4:c.12137+9C>T | XP_005262022.1:n.12137+9C>T | |
| XM_011530751.2:c.12386+9C>T | XP_011529053.1:n.12386+9C>T | |
| XM_017029191.1:c.12518+9C>T | XP_016884680.1:n.12518+9C>T | |
| XM_017029192.1:c.12515+9C>T | XP_016884681.1:n.12515+9C>T | |
| XM_017029193.1:c.12497+9C>T | XP_016884682.1:n.12497+9C>T | |
| XM_017029194.1:c.12473+9C>T | XP_016884683.1:n.12473+9C>T | |
| XM_017029195.1:c.12470+9C>T | XP_016884684.1:n.12470+9C>T | |
| XM_017029196.1:c.12467+9C>T | XP_016884685.1:n.12467+9C>T | |
| XM_017029197.1:c.12419+9C>T | XP_016884686.1:n.12419+9C>T | |
| XM_017029198.2:c.12407+9C>T | XP_016884687.1:n.12407+9C>T | |
| XM_017029199.1:c.12407+9C>T | XP_016884688.1:n.12407+9C>T | |
| XM_017029200.1:c.12407+9C>T | XP_016884689.1:n.12407+9C>T | |
| XM_017029201.1:c.12407+9C>T | XP_016884690.1:n.12407+9C>T | |
| XM_017029202.1:c.12407+9C>T | XP_016884691.1:n.12407+9C>T | |
| XM_017029203.1:c.12407+9C>T | XP_016884692.1:n.12407+9C>T | |
| XM_017029204.1:c.12269+9C>T | XP_016884693.1:n.12269+9C>T | |
| XM_017029206.1:c.12116+9C>T | XP_016884695.1:n.12116+9C>T | |
| XM_024452322.1:c.12386+9C>T | XP_024308090.1:n.12386+9C>T | |
| NM_031407.7:c.12137+9C>T MANE Select | NP_113584.3:n.12137+9C>T |