Linked Data
ClinVar Variation Id:
3186192
ClinVar RCV Id:
RCV004479590
dbSNP Id:
rs374449593
gnomAD v2:
4-69536294-T-C
gnomAD v3:
4-68670576-T-C
gnomAD v4:
4-68670576-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670576T>C , CM000666.2:g.68670576T>C | GRCh38 |
| NC_000004.11:g.69536294T>C , CM000666.1:g.69536294T>C | GRCh37 |
| NC_000004.10:g.69218889T>C | NCBI36 |
| NG_052676.1:g.5201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.43A>G MANE Select | ENSP00000341045.5:p.Ser15Gly | |
| ENST00000338206.5:c.43A>G | ENSP00000341045.5:p.Ser15Gly | |
| ENST00000616841.4:c.43A>G | ENSP00000482004.1:p.Ser15Gly | |
| NM_001076.3:c.43A>G | NP_001067.2:p.Ser15Gly | |
| NM_001076.4:c.43A>G MANE Select | NP_001067.2:p.Ser15Gly |