Linked Data
ClinVar Variation Id:
372536
dbSNP Id:
rs904122716
gnomAD v2:
14-24725269-C-T
gnomAD v3:
14-24256063-C-T
gnomAD v4:
14-24256063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256063C>T , CM000676.2:g.24256063C>T | GRCh38 |
| NC_000014.8:g.24725269C>T , CM000676.1:g.24725269C>T | GRCh37 |
| NC_000014.7:g.23795109C>T | NCBI36 |
| NG_007150.1:g.12104G>A | |
| NG_007150.2:g.12104G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1417G>A MANE Select | ENSP00000206765.6:p.Gly473Ser | |
| ENST00000206765.10:c.1417G>A | ENSP00000206765.6:p.Gly473Ser | |
| ENST00000544573.5:c.91G>A | ENSP00000439446.1:p.Gly31Ser | |
| ENST00000559136.1:c.490G>A | ENSP00000453337.1:p.Gly164Ser | |
| NM_000359.2:c.1417G>A | NP_000350.1:p.Gly473Ser | |
| NM_000359.3:c.1417G>A MANE Select | NP_000350.1:p.Gly473Ser |