Linked Data
ClinVar Variation Id:
768231
ClinVar RCV Id:
RCV000947101
dbSNP Id:
rs112148375
ExAC:
8:25337481 G / A
gnomAD v2:
8-25337481-G-A
gnomAD v3:
8-25479965-G-A
gnomAD v4:
8-25479965-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.25479965G>A , CM000670.2:g.25479965G>A | GRCh38 |
| NC_000008.10:g.25337481G>A , CM000670.1:g.25337481G>A | GRCh37 |
| NC_000008.9:g.25393398G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330560.8:c.873G>A MANE Select | ENSP00000328228.3:p.Ser291= | |
| ENST00000330560.7:c.873G>A | ENSP00000328228.3:p.Ser291= | |
| ENST00000380665.3:c.828G>A | ENSP00000370040.3:p.Ser276= | |
| ENST00000521098.2:n.75G>A | ||
| ENST00000523454.5:n.353G>A | ||
| NM_152562.2:c.873G>A | NP_689775.2:p.Ser291= | |
| XM_005273418.2:c.873G>A | XP_005273475.1:p.Ser291= | |
| XM_006716294.1:c.888G>A | XP_006716357.1:p.Ser296= | |
| XM_011544415.1:c.960G>A | XP_011542717.1:p.Ser320= | |
| XM_011544416.1:c.960G>A | XP_011542718.1:p.Ser320= | |
| XM_011544417.1:c.960G>A | XP_011542719.1:p.Ser320= | |
| XM_011544418.1:c.945G>A | XP_011542720.1:p.Ser315= | |
| XM_011544419.1:c.465G>A | XP_011542721.1:p.Ser155= | |
| XM_011544420.1:c.960G>A | XP_011542722.1:p.Ser320= | |
| XR_949377.1:n.1503G>A | ||
| NM_001317906.1:c.828G>A | NP_001304835.1:p.Ser276= | |
| NM_001317907.1:c.873G>A | NP_001304836.1:p.Ser291= | |
| NM_152562.3:c.873G>A | NP_689775.2:p.Ser291= | |
| XM_006716294.2:c.888G>A | XP_006716357.1:p.Ser296= | |
| XM_011544416.2:c.960G>A | XP_011542718.1:p.Ser320= | |
| XM_011544417.3:c.960G>A | XP_011542719.1:p.Ser320= | |
| XM_024447073.1:c.960G>A | XP_024302841.1:p.Ser320= | |
| XR_001745479.1:n.1395G>A | ||
| NM_152562.4:c.873G>A MANE Select | NP_689775.2:p.Ser291= |