Linked Data
dbSNP Id:
rs782175540
ExAC:
X:53560940 A / C
gnomAD v2:
X-53560940-A-C
gnomAD v3:
X-53533979-A-C
gnomAD v4:
X-53533979-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53533979A>C , CM000685.2:g.53533979A>C | GRCh38 |
| NC_000023.10:g.53560940A>C , CM000685.1:g.53560940A>C | GRCh37 |
| NC_000023.9:g.53577665A>C | NCBI36 |
| NG_016261.2:g.157755T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12806+28T>G | ENSP00000515693.1:n.12806+28T>G | |
| ENST00000262854.11:c.13022+28T>G MANE Select | ENSP00000262854.6:n.13022+28T>G | |
| ENST00000262854.10:c.13022+28T>G | ENSP00000262854.6:n.13022+28T>G | |
| ENST00000342160.7:c.13022+28T>G | ENSP00000340648.3:n.13022+28T>G | |
| ENST00000426907.5:c.3489+28T>G | ||
| ENST00000488459.1:n.363T>G | ||
| ENST00000612484.4:c.12995+28T>G | ENSP00000479451.1:n.12995+28T>G | |
| NM_031407.6:c.13022+28T>G | NP_113584.3:n.13022+28T>G | |
| XM_005261965.2:c.13022+28T>G | XP_005262022.1:n.13022+28T>G | |
| XM_011530746.1:c.13271+28T>G | XP_011529048.1:n.13271+28T>G | |
| XM_011530747.1:c.13271+28T>G | XP_011529049.1:n.13271+28T>G | |
| XM_011530748.1:c.13271+28T>G | XP_011529050.1:n.13271+28T>G | |
| XM_011530749.1:c.13271+28T>G | XP_011529051.1:n.13271+28T>G | |
| XM_011530750.1:c.13271+28T>G | XP_011529052.1:n.13271+28T>G | |
| XM_011530751.1:c.13271+28T>G | XP_011529053.1:n.13271+28T>G | |
| XM_011530752.1:c.13268+28T>G | XP_011529054.1:n.13268+28T>G | |
| XM_011530753.1:c.13226+28T>G | XP_011529055.1:n.13226+28T>G | |
| XM_011530754.1:c.13223+28T>G | XP_011529056.1:n.13223+28T>G | |
| XM_011530755.1:c.13220+28T>G | XP_011529057.1:n.13220+28T>G | |
| XM_011530756.1:c.13172+28T>G | XP_011529058.1:n.13172+28T>G | |
| XM_011530757.1:c.12869+28T>G | XP_011529059.1:n.12869+28T>G | |
| XM_005261965.4:c.13022+28T>G | XP_005262022.1:n.13022+28T>G | |
| XM_011530751.2:c.13271+28T>G | XP_011529053.1:n.13271+28T>G | |
| XM_017029191.1:c.13403+28T>G | XP_016884680.1:n.13403+28T>G | |
| XM_017029192.1:c.13400+28T>G | XP_016884681.1:n.13400+28T>G | |
| XM_017029193.1:c.13382+28T>G | XP_016884682.1:n.13382+28T>G | |
| XM_017029194.1:c.13358+28T>G | XP_016884683.1:n.13358+28T>G | |
| XM_017029195.1:c.13355+28T>G | XP_016884684.1:n.13355+28T>G | |
| XM_017029196.1:c.13352+28T>G | XP_016884685.1:n.13352+28T>G | |
| XM_017029197.1:c.13304+28T>G | XP_016884686.1:n.13304+28T>G | |
| XM_017029198.2:c.13292+28T>G | XP_016884687.1:n.13292+28T>G | |
| XM_017029199.1:c.13292+28T>G | XP_016884688.1:n.13292+28T>G | |
| XM_017029200.1:c.13292+28T>G | XP_016884689.1:n.13292+28T>G | |
| XM_017029201.1:c.13292+28T>G | XP_016884690.1:n.13292+28T>G | |
| XM_017029202.1:c.13292+28T>G | XP_016884691.1:n.13292+28T>G | |
| XM_017029203.1:c.13292+28T>G | XP_016884692.1:n.13292+28T>G | |
| XM_017029204.1:c.13154+28T>G | XP_016884693.1:n.13154+28T>G | |
| XM_017029206.1:c.13001+28T>G | XP_016884695.1:n.13001+28T>G | |
| XM_024452322.1:c.13271+28T>G | XP_024308090.1:n.13271+28T>G | |
| NM_031407.7:c.13022+28T>G MANE Select | NP_113584.3:n.13022+28T>G |