Linked Data
ClinVar Variation Id:
12500
dbSNP Id:
rs121918732
ExAC:
14:24729761 C / T
gnomAD v2:
14-24729761-C-T
gnomAD v3:
14-24260555-C-T
gnomAD v4:
14-24260555-C-T
PubMed:
PMID:9326318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24260555C>T , CM000676.2:g.24260555C>T | GRCh38 |
| NC_000014.8:g.24729761C>T , CM000676.1:g.24729761C>T | GRCh37 |
| NC_000014.7:g.23799601C>T | NCBI36 |
| NG_007150.1:g.7612G>A | |
| NG_007150.2:g.7612G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.652G>A MANE Select | ENSP00000206765.6:p.Gly218Ser | |
| ENST00000206765.10:c.652G>A | ENSP00000206765.6:p.Gly218Ser | |
| ENST00000544573.5:c.-29+1572G>A | ENSP00000439446.1:n.-29+1572G>A | |
| NM_000359.2:c.652G>A | NP_000350.1:p.Gly218Ser | |
| NM_000359.3:c.652G>A MANE Select | NP_000350.1:p.Gly218Ser |