Linked Data
ClinVar Variation Id:
67610
ClinVar RCV Id:
RCV000058361
dbSNP Id:
rs199473649
PubMed:
PMID:22581653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370644A>G , CM000683.2:g.34370644A>G | GRCh38 |
| NC_000021.8:g.35742943A>G , CM000683.1:g.35742943A>G | GRCh37 |
| NC_000021.7:g.34664813A>G | NCBI36 |
| NG_008804.1:g.11621A>G , LRG_291:g.11621A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.166A>G MANE Select | ENSP00000290310.2:p.Met56Val | |
| ENST00000290310.3:c.166A>G | ENSP00000290310.2:p.Met56Val | |
| NM_172201.1:c.166A>G , LRG_291t1:c.166A>G | NP_751951.1:p.Met56Val | |
| XR_937683.1:n.677T>C | ||
| XR_937684.1:n.677T>C | ||
| XR_001755012.2:n.798T>C | ||
| XR_001755013.2:n.677T>C | ||
| XR_937683.2:n.677T>C | ||
| NM_172201.2:c.166A>G MANE Select | NP_751951.1:p.Met56Val |