Linked Data
ClinVar Variation Id:
96203
dbSNP Id:
rs426298
ExAC:
X:53563589 A / G
gnomAD v2:
X-53563589-A-G
gnomAD v3:
X-53536628-A-G
gnomAD v4:
X-53536628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53536628A>G , CM000685.2:g.53536628A>G | GRCh38 |
| NC_000023.10:g.53563589A>G , CM000685.1:g.53563589A>G | GRCh37 |
| NC_000023.9:g.53580314A>G | NCBI36 |
| NG_016261.2:g.155106T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.11961T>C | ENSP00000515693.1:p.Gly3987= | |
| ENST00000262854.11:c.12177T>C MANE Select | ENSP00000262854.6:p.Gly4059= | |
| ENST00000262854.10:c.12177T>C | ENSP00000262854.6:p.Gly4059= | |
| ENST00000342160.7:c.12177T>C | ENSP00000340648.3:p.Gly4059= | |
| ENST00000426907.5:c.2644T>C | ||
| ENST00000474971.1:n.24T>C | ||
| ENST00000612484.4:c.12150T>C | ENSP00000479451.1:p.Gly4050= | |
| NM_031407.6:c.12177T>C | NP_113584.3:p.Gly4059= | |
| XM_005261965.2:c.12177T>C | XP_005262022.1:p.Gly4059= | |
| XM_011530746.1:c.12426T>C | XP_011529048.1:p.Gly4142= | |
| XM_011530747.1:c.12426T>C | XP_011529049.1:p.Gly4142= | |
| XM_011530748.1:c.12426T>C | XP_011529050.1:p.Gly4142= | |
| XM_011530749.1:c.12426T>C | XP_011529051.1:p.Gly4142= | |
| XM_011530750.1:c.12426T>C | XP_011529052.1:p.Gly4142= | |
| XM_011530751.1:c.12426T>C | XP_011529053.1:p.Gly4142= | |
| XM_011530752.1:c.12423T>C | XP_011529054.1:p.Gly4141= | |
| XM_011530753.1:c.12381T>C | XP_011529055.1:p.Gly4127= | |
| XM_011530754.1:c.12378T>C | XP_011529056.1:p.Gly4126= | |
| XM_011530755.1:c.12375T>C | XP_011529057.1:p.Gly4125= | |
| XM_011530756.1:c.12327T>C | XP_011529058.1:p.Gly4109= | |
| XM_011530757.1:c.12024T>C | XP_011529059.1:p.Gly4008= | |
| XM_005261965.4:c.12177T>C | XP_005262022.1:p.Gly4059= | |
| XM_011530751.2:c.12426T>C | XP_011529053.1:p.Gly4142= | |
| XM_017029191.1:c.12558T>C | XP_016884680.1:p.Gly4186= | |
| XM_017029192.1:c.12555T>C | XP_016884681.1:p.Gly4185= | |
| XM_017029193.1:c.12537T>C | XP_016884682.1:p.Gly4179= | |
| XM_017029194.1:c.12513T>C | XP_016884683.1:p.Gly4171= | |
| XM_017029195.1:c.12510T>C | XP_016884684.1:p.Gly4170= | |
| XM_017029196.1:c.12507T>C | XP_016884685.1:p.Gly4169= | |
| XM_017029197.1:c.12459T>C | XP_016884686.1:p.Gly4153= | |
| XM_017029198.2:c.12447T>C | XP_016884687.1:p.Gly4149= | |
| XM_017029199.1:c.12447T>C | XP_016884688.1:p.Gly4149= | |
| XM_017029200.1:c.12447T>C | XP_016884689.1:p.Gly4149= | |
| XM_017029201.1:c.12447T>C | XP_016884690.1:p.Gly4149= | |
| XM_017029202.1:c.12447T>C | XP_016884691.1:p.Gly4149= | |
| XM_017029203.1:c.12447T>C | XP_016884692.1:p.Gly4149= | |
| XM_017029204.1:c.12309T>C | XP_016884693.1:p.Gly4103= | |
| XM_017029206.1:c.12156T>C | XP_016884695.1:p.Gly4052= | |
| XM_024452322.1:c.12426T>C | XP_024308090.1:p.Gly4142= | |
| NM_031407.7:c.12177T>C MANE Select | NP_113584.3:p.Gly4059= |