Linked Data
ClinVar Variation Id:
1741160
dbSNP Id:
rs782369956
ExAC:
X:53565893 C / T
gnomAD v2:
X-53565893-C-T
gnomAD v3:
X-53538932-C-T
gnomAD v4:
X-53538932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53538932C>T , CM000685.2:g.53538932C>T | GRCh38 |
| NC_000023.10:g.53565893C>T , CM000685.1:g.53565893C>T | GRCh37 |
| NC_000023.9:g.53582618C>T | NCBI36 |
| NG_016261.2:g.152802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.11662+71G>A | ENSP00000515693.1:n.11662+71G>A | |
| ENST00000262854.11:c.11781G>A MANE Select | ENSP00000262854.6:p.Thr3927= | |
| ENST00000262854.10:c.11781G>A | ENSP00000262854.6:p.Thr3927= | |
| ENST00000342160.7:c.11781G>A | ENSP00000340648.3:p.Thr3927= | |
| ENST00000426907.5:c.2248G>A | ||
| ENST00000612484.4:c.11754G>A | ENSP00000479451.1:p.Thr3918= | |
| NM_031407.6:c.11781G>A | NP_113584.3:p.Thr3927= | |
| XM_005261965.2:c.11781G>A | XP_005262022.1:p.Thr3927= | |
| XM_011530746.1:c.12030G>A | XP_011529048.1:p.Thr4010= | |
| XM_011530747.1:c.12030G>A | XP_011529049.1:p.Thr4010= | |
| XM_011530748.1:c.12030G>A | XP_011529050.1:p.Thr4010= | |
| XM_011530749.1:c.12030G>A | XP_011529051.1:p.Thr4010= | |
| XM_011530750.1:c.12030G>A | XP_011529052.1:p.Thr4010= | |
| XM_011530751.1:c.12030G>A | XP_011529053.1:p.Thr4010= | |
| XM_011530752.1:c.12027G>A | XP_011529054.1:p.Thr4009= | |
| XM_011530753.1:c.11985G>A | XP_011529055.1:p.Thr3995= | |
| XM_011530754.1:c.11982G>A | XP_011529056.1:p.Thr3994= | |
| XM_011530755.1:c.11979G>A | XP_011529057.1:p.Thr3993= | |
| XM_011530756.1:c.11931G>A | XP_011529058.1:p.Thr3977= | |
| XM_011530757.1:c.11628G>A | XP_011529059.1:p.Thr3876= | |
| XM_005261965.4:c.11781G>A | XP_005262022.1:p.Thr3927= | |
| XM_011530751.2:c.12030G>A | XP_011529053.1:p.Thr4010= | |
| XM_017029191.1:c.12162G>A | XP_016884680.1:p.Thr4054= | |
| XM_017029192.1:c.12159G>A | XP_016884681.1:p.Thr4053= | |
| XM_017029193.1:c.12141G>A | XP_016884682.1:p.Thr4047= | |
| XM_017029194.1:c.12117G>A | XP_016884683.1:p.Thr4039= | |
| XM_017029195.1:c.12114G>A | XP_016884684.1:p.Thr4038= | |
| XM_017029196.1:c.12111G>A | XP_016884685.1:p.Thr4037= | |
| XM_017029197.1:c.12063G>A | XP_016884686.1:p.Thr4021= | |
| XM_017029198.2:c.12051G>A | XP_016884687.1:p.Thr4017= | |
| XM_017029199.1:c.12051G>A | XP_016884688.1:p.Thr4017= | |
| XM_017029200.1:c.12051G>A | XP_016884689.1:p.Thr4017= | |
| XM_017029201.1:c.12051G>A | XP_016884690.1:p.Thr4017= | |
| XM_017029202.1:c.12051G>A | XP_016884691.1:p.Thr4017= | |
| XM_017029203.1:c.12051G>A | XP_016884692.1:p.Thr4017= | |
| XM_017029204.1:c.11913G>A | XP_016884693.1:p.Thr3971= | |
| XM_017029206.1:c.11760G>A | XP_016884695.1:p.Thr3920= | |
| XM_024452322.1:c.12030G>A | XP_024308090.1:p.Thr4010= | |
| NM_031407.7:c.11781G>A MANE Select | NP_113584.3:p.Thr3927= |