Linked Data
ClinVar Variation Id:
191467
ClinVar RCV Id:
RCV000171660
dbSNP Id:
rs139202426
ExAC:
21:35743134 C / A
gnomAD v2:
21-35743134-C-A
gnomAD v3:
21-34370835-C-A
gnomAD v4:
21-34370835-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370835C>A , CM000683.2:g.34370835C>A | GRCh38 |
| NC_000021.8:g.35743134C>A , CM000683.1:g.35743134C>A | GRCh37 |
| NC_000021.7:g.34665004C>A | NCBI36 |
| NG_008804.1:g.11812C>A , LRG_291:g.11812C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.357C>A MANE Select | ENSP00000290310.2:p.Phe119Leu | |
| ENST00000290310.3:c.357C>A | ENSP00000290310.2:p.Phe119Leu | |
| NM_172201.1:c.357C>A , LRG_291t1:c.357C>A | NP_751951.1:p.Phe119Leu | |
| XR_937683.1:n.486G>T | ||
| XR_937684.1:n.486G>T | ||
| XR_001755012.2:n.607G>T | ||
| XR_001755013.2:n.486G>T | ||
| XR_937683.2:n.486G>T | ||
| NM_172201.2:c.357C>A MANE Select | NP_751951.1:p.Phe119Leu |