Linked Data
ClinVar Variation Id:
12497
ClinVar RCV Id:
RCV000013320
dbSNP Id:
rs121918729
ExAC:
14:24731278 C / T
gnomAD v2:
14-24731278-C-T
gnomAD v3:
14-24262072-C-T
gnomAD v4:
14-24262072-C-T
PubMed:
PMID:11298529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24262072C>T , CM000676.2:g.24262072C>T | GRCh38 |
| NC_000014.8:g.24731278C>T , CM000676.1:g.24731278C>T | GRCh37 |
| NC_000014.7:g.23801118C>T | NCBI36 |
| NG_007150.1:g.6095G>A | |
| NG_007150.2:g.6095G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.281G>A MANE Select | ENSP00000206765.6:p.Gly94Asp | |
| ENST00000206765.10:c.281G>A | ENSP00000206765.6:p.Gly94Asp | |
| ENST00000544573.5:c.-29+55G>A | ENSP00000439446.1:n.-29+55G>A | |
| ENST00000558074.1:c.281G>A | ENSP00000453840.1:p.Gly94Asp | |
| NM_000359.2:c.281G>A | NP_000350.1:p.Gly94Asp | |
| NM_000359.3:c.281G>A MANE Select | NP_000350.1:p.Gly94Asp |