Linked Data
ClinVar Variation Id:
1509111
dbSNP Id:
rs762253691
ExAC:
X:20187601 A / C
gnomAD v2:
X-20187601-A-C
gnomAD v3:
X-20169483-A-C
gnomAD v4:
X-20169483-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.20169483A>C , CM000685.2:g.20169483A>C | GRCh38 |
| NC_000023.10:g.20187601A>C , CM000685.1:g.20187601A>C | GRCh37 |
| NC_000023.9:g.20097522A>C | NCBI36 |
| NG_007488.1:g.102150T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379565.9:c.1362T>G MANE Select | ENSP00000368884.3:p.Asp454Glu | |
| ENST00000457145.6:c.1275T>G | ENSP00000407655.2:p.Asp425Glu | |
| ENST00000642835.1:c.1278T>G | ENSP00000494769.1:p.Asp426Glu | |
| ENST00000643073.1:c.980T>G | ENSP00000495839.1:n.980T>G | |
| ENST00000643085.1:c.1278T>G | ENSP00000496271.1:p.Asp426Glu | |
| ENST00000643337.1:c.1278T>G | ENSP00000493487.1:p.Asp426Glu | |
| ENST00000643402.1:c.1278T>G | ENSP00000493862.1:p.Asp426Glu | |
| ENST00000644368.1:c.1278T>G | ENSP00000495776.1:p.Asp426Glu | |
| ENST00000644893.1:c.1275T>G | ENSP00000495974.1:p.Asp425Glu | |
| ENST00000645268.1:c.*583T>G | ENSP00000496226.1:n.*583T>G | |
| ENST00000645270.1:c.1278T>G | ENSP00000494967.1:p.Asp426Glu | |
| ENST00000646610.1:c.1278T>G | ENSP00000495462.1:p.Asp426Glu | |
| ENST00000647265.1:c.1278T>G | ENSP00000494220.1:p.Asp426Glu | |
| ENST00000379565.7:c.1362T>G | ENSP00000368884.3:p.Asp454Glu | |
| ENST00000479809.1:n.128T>G | ||
| NM_004586.2:c.1362T>G | NP_004577.1:p.Asp454Glu | |
| XM_005274573.2:c.1359T>G | XP_005274630.1:p.Asp453Glu | |
| XM_005274577.2:c.1272T>G | XP_005274634.1:p.Asp424Glu | |
| XM_006724507.2:c.1275T>G | XP_006724570.1:p.Asp425Glu | |
| XM_011545555.1:c.1380T>G | XP_011543857.1:p.Asp460Glu | |
| XM_011545556.1:c.1377T>G | XP_011543858.1:p.Asp459Glu | |
| XM_011545557.1:c.1296T>G | XP_011543859.1:p.Asp432Glu | |
| XM_011545558.1:c.1296T>G | XP_011543860.1:p.Asp432Glu | |
| XM_011545559.1:c.1296T>G | XP_011543861.1:p.Asp432Glu | |
| XM_011545560.1:c.1296T>G | XP_011543862.1:p.Asp432Glu | |
| XM_011545561.1:c.1296T>G | XP_011543863.1:p.Asp432Glu | |
| XM_011545562.1:c.1293T>G | XP_011543864.1:p.Asp431Glu | |
| XM_011545563.1:c.1278T>G | XP_011543865.1:p.Asp426Glu | |
| XM_005274577.3:c.1272T>G | XP_005274634.1:p.Asp424Glu | |
| XM_006724507.3:c.1275T>G | XP_006724570.1:p.Asp425Glu | |
| XM_011545557.2:c.1296T>G | XP_011543859.1:p.Asp432Glu | |
| XM_011545558.2:c.1296T>G | XP_011543860.1:p.Asp432Glu | |
| XM_011545561.2:c.1296T>G | XP_011543863.1:p.Asp432Glu | |
| XM_011545562.2:c.1293T>G | XP_011543864.1:p.Asp431Glu | |
| XM_011545563.3:c.1278T>G | XP_011543865.1:p.Asp426Glu | |
| XM_017029713.1:c.1278T>G | XP_016885202.1:p.Asp426Glu | |
| XM_017029714.2:c.1278T>G | XP_016885203.1:p.Asp426Glu | |
| XM_017029715.2:c.1278T>G | XP_016885204.1:p.Asp426Glu | |
| XM_017029716.1:c.1278T>G | XP_016885205.1:p.Asp426Glu | |
| XM_017029717.2:c.1278T>G | XP_016885206.1:p.Asp426Glu | |
| XM_017029718.2:c.1275T>G | XP_016885207.1:p.Asp425Glu | |
| XM_017029719.2:c.1275T>G | XP_016885208.1:p.Asp425Glu | |
| NM_004586.3:c.1362T>G MANE Select | NP_004577.1:p.Asp454Glu |