Linked Data
ClinVar Variation Id:
1551108
dbSNP Id:
rs1158378032
gnomAD v2:
X-22094576-A-G
gnomAD v4:
X-22076458-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22076458A>G , CM000685.2:g.22076458A>G | GRCh38 |
| NC_000023.10:g.22094576A>G , CM000685.1:g.22094576A>G | GRCh37 |
| NC_000023.9:g.22004497A>G | NCBI36 |
| NG_007563.2:g.48656A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.846A>G | ||
| ENST00000683214.1:n.545-1018A>G | ||
| ENST00000684143.1:c.420A>G | ENSP00000508264.1:p.Ser140= | |
| ENST00000684745.1:n.97A>G | ||
| ENST00000379374.5:c.420A>G MANE Select | ENSP00000368682.4:p.Ser140= | |
| ENST00000379374.4:c.420A>G | ENSP00000368682.4:p.Ser140= | |
| NM_000444.5:c.420A>G | NP_000435.3:p.Ser140= | |
| NM_001282754.1:c.420A>G | NP_001269683.1:p.Ser140= | |
| XM_011545535.1:c.420A>G | XP_011543837.1:p.Ser140= | |
| XM_017029579.1:c.-93-13971A>G | XP_016885068.1:n.-93-13971A>G | |
| XM_024452390.1:c.129A>G | XP_024308158.1:p.Ser43= | |
| XR_001755695.1:n.1099A>G | ||
| NM_000444.6:c.420A>G MANE Select | NP_000435.3:p.Ser140= | |
| NM_001282754.2:c.420A>G | NP_001269683.1:p.Ser140= |