Linked Data
ClinVar Variation Id:
39532
ClinVar RCV Id:
RCV000032730
dbSNP Id:
rs202037016
gnomAD v2:
14-24728365-C-T
gnomAD v3:
14-24259159-C-T
gnomAD v4:
14-24259159-C-T
PubMed:
PMID:19500103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259159C>T , CM000676.2:g.24259159C>T | GRCh38 |
| NC_000014.8:g.24728365C>T , CM000676.1:g.24728365C>T | GRCh37 |
| NC_000014.7:g.23798205C>T | NCBI36 |
| NG_007150.1:g.9008G>A | |
| NG_007150.2:g.9008G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1075G>A MANE Select | ENSP00000206765.6:p.Val359Met | |
| ENST00000206765.10:c.1075G>A | ENSP00000206765.6:p.Val359Met | |
| ENST00000544573.5:c.-28-771G>A | ENSP00000439446.1:n.-28-771G>A | |
| ENST00000559136.1:c.148G>A | ENSP00000453337.1:p.Val50Met | |
| NM_000359.2:c.1075G>A | NP_000350.1:p.Val359Met | |
| NM_000359.3:c.1075G>A MANE Select | NP_000350.1:p.Val359Met |