Linked Data
dbSNP Id:
rs748147417
ExAC:
X:21863433 T / G
gnomAD v2:
X-21863433-T-G
gnomAD v3:
X-21845315-T-G
gnomAD v4:
X-21845315-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845315T>G , CM000685.2:g.21845315T>G | GRCh38 |
| NC_000023.10:g.21863433T>G , CM000685.1:g.21863433T>G | GRCh37 |
| NC_000023.9:g.21773354T>G | NCBI36 |
| NG_012797.1:g.10778T>G | |
| NG_012797.2:g.10778T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.369T>G MANE Select | ENSP00000368798.5:p.Ser123= | |
| ENST00000365779.2:c.369T>G | ENSP00000368796.1:p.Ser123= | |
| ENST00000379484.9:c.369T>G | ENSP00000368798.5:p.Ser123= | |
| ENST00000465888.1:n.468T>G | ||
| NM_015884.3:c.369T>G | NP_056968.1:p.Ser123= | |
| NM_015884.4:c.369T>G MANE Select | NP_056968.1:p.Ser123= |