Linked Data
ClinVar Variation Id:
1576992
ClinVar RCV Id:
RCV002085643
dbSNP Id:
rs1346046424
gnomAD v3:
12-4911894-C-T
gnomAD v4:
12-4911894-C-T
MyVariant Identifiers:
chr12:g.5021060C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911894C>T , CM000674.2:g.4911894C>T | GRCh38 |
| NC_000012.11:g.5021060C>T , CM000674.1:g.5021060C>T | GRCh37 |
| NC_000012.10:g.4891321C>T | NCBI36 |
| NG_011815.1:g.6988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.516C>T MANE Select | ENSP00000371985.3:p.Val172= | |
| ENST00000543874.3:n.105+1422C>T | ||
| ENST00000639306.1:c.354C>T | ENSP00000492506.1:p.Val118= | |
| ENST00000382545.3:c.516C>T | ENSP00000371985.3:p.Val172= | |
| ENST00000541095.1:n.105+1422C>T | ||
| ENST00000543874.2:n.96+1422C>T | ||
| NM_000217.2:c.516C>T | NP_000208.2:p.Val172= | |
| NM_000217.3:c.516C>T MANE Select | NP_000208.2:p.Val172= |