Linked Data
ClinVar Variation Id:
756661
ClinVar RCV Id:
RCV000934182
dbSNP Id:
rs1445452986
gnomAD v4:
12-52519832-C-T
MyVariant Identifiers:
chr12:g.52913616C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519832C>T , CM000674.2:g.52519832C>T | GRCh38 |
| NC_000012.11:g.52913616C>T , CM000674.1:g.52913616C>T | GRCh37 |
| NC_000012.10:g.51199883C>T | NCBI36 |
| NG_008297.1:g.5628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.465G>A MANE Select | ENSP00000252242.4:p.Leu155= | |
| ENST00000252242.8:c.465G>A | ENSP00000252242.4:p.Leu155= | |
| ENST00000549420.1:c.135G>A | ENSP00000447209.1:p.Leu45= | |
| ENST00000551275.1:c.360G>A | ENSP00000448041.1:p.Leu120= | |
| ENST00000552629.5:n.563G>A | ||
| NM_000424.3:c.465G>A | NP_000415.2:p.Leu155= | |
| NM_000424.4:c.465G>A MANE Select | NP_000415.2:p.Leu155= |