Linked Data
ClinVar Variation Id:
3144620
ClinVar RCV Id:
RCV004441477
dbSNP Id:
rs768795101
ExAC:
15:78894407 C / T
gnomAD v2:
15-78894407-C-T
gnomAD v3:
15-78602065-C-T
gnomAD v4:
15-78602065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602065C>T , CM000677.2:g.78602065C>T | GRCh38 |
| NC_000015.9:g.78894407C>T , CM000677.1:g.78894407C>T | GRCh37 |
| NC_000015.8:g.76681462C>T | NCBI36 |
| NG_016143.1:g.24231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.577G>A MANE Select | ENSP00000315602.5:p.Gly193Ser | |
| ENST00000326828.5:c.577G>A | ENSP00000315602.5:p.Gly193Ser | |
| ENST00000348639.7:c.577G>A | ENSP00000267951.4:p.Gly193Ser | |
| ENST00000558903.1:n.284G>A | ||
| ENST00000559658.5:c.577G>A | ENSP00000452896.1:p.Gly193Ser | |
| NM_000743.4:c.577G>A | NP_000734.2:p.Gly193Ser | |
| NM_001166694.1:c.577G>A | NP_001160166.1:p.Gly193Ser | |
| NR_046313.1:n.1078G>A | ||
| XM_006720382.1:c.376G>A | XP_006720445.1:p.Gly126Ser | |
| XM_011521173.1:c.496G>A | XP_011519475.1:p.Gly166Ser | |
| XM_006720382.3:c.376G>A | XP_006720445.1:p.Gly126Ser | |
| NM_000743.5:c.577G>A MANE Select | NP_000734.2:p.Gly193Ser | |
| NM_001166694.2:c.577G>A | NP_001160166.1:p.Gly193Ser | |
| NR_046313.2:n.779G>A |