Linked Data
ClinVar Variation Id:
368002
dbSNP Id:
rs112057482
ExAC:
X:138643939 A / G
gnomAD v2:
X-138643939-A-G
gnomAD v3:
X-139561780-A-G
gnomAD v4:
X-139561780-A-G
ERepo:
CA10529870/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561780A>G , CM000685.2:g.139561780A>G | GRCh38 |
| NC_000023.10:g.138643939A>G , CM000685.1:g.138643939A>G | GRCh37 |
| NC_000023.9:g.138471605A>G | NCBI36 |
| NG_007994.1:g.36045A>G , LRG_556:g.36045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1095A>G MANE Select | ENSP00000218099.2:p.Ser365= | |
| ENST00000643157.1:n.1723+39A>G | ||
| ENST00000218099.6:c.1095A>G | ENSP00000218099.2:p.Ser365= | |
| ENST00000394090.2:c.981A>G | ENSP00000377650.2:p.Ser327= | |
| NM_000133.3:c.1095A>G , LRG_556t1:c.1095A>G | NP_000124.1:p.Ser365= | |
| NM_001313913.1:c.981A>G | NP_001300842.1:p.Ser327= | |
| XM_005262397.3:c.966A>G | XP_005262454.1:p.Ser322= | |
| XM_005262397.4:c.966A>G | XP_005262454.1:p.Ser322= | |
| NM_000133.4:c.1095A>G MANE Select | NP_000124.1:p.Ser365= | |
| NM_001313913.2:c.981A>G | NP_001300842.1:p.Ser327= |