Linked Data
ClinVar Variation Id:
1124717
ClinVar RCV Id:
RCV001456193
dbSNP Id:
rs782571086
ExAC:
X:49074986 C / T
gnomAD v2:
X-49074986-C-T
gnomAD v3:
X-49218527-C-T
gnomAD v4:
X-49218527-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49218527C>T , CM000685.2:g.49218527C>T | GRCh38 |
| NC_000023.10:g.49074986C>T , CM000685.1:g.49074986C>T | GRCh37 |
| NC_000023.9:g.48961930C>T | NCBI36 |
| NG_009095.2:g.19840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2856G>A MANE Select | ENSP00000321618.6:p.Ser952= | |
| ENST00000323022.9:c.2856G>A | ENSP00000321618.5:p.Ser952= | |
| ENST00000376251.5:c.2694G>A | ENSP00000365427.1:p.Ser898= | |
| ENST00000376265.2:c.2889G>A | ENSP00000365441.2:p.Ser963= | |
| NM_001256789.2:c.2856G>A | NP_001243718.1:p.Ser952= | |
| NM_001256790.2:c.2694G>A | NP_001243719.1:p.Ser898= | |
| NM_005183.3:c.2889G>A | NP_005174.2:p.Ser963= | |
| XM_011543983.1:c.2694G>A | XP_011542285.1:p.Ser898= | |
| XM_011543983.2:c.2694G>A | XP_011542285.1:p.Ser898= | |
| XM_017029836.1:c.123G>A | XP_016885325.1:p.Ser41= | |
| NM_001256789.3:c.2856G>A MANE Select | NP_001243718.1:p.Ser952= | |
| NM_001256790.3:c.2694G>A | NP_001243719.1:p.Ser898= | |
| NM_005183.4:c.2889G>A | NP_005174.2:p.Ser963= |