Linked Data
ClinVar Variation Id:
2642594
ClinVar RCV Id:
RCV003396126
MyVariant Identifiers:
chr12:g.5021126T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911960T>C , CM000674.2:g.4911960T>C | GRCh38 |
| NC_000012.11:g.5021126T>C , CM000674.1:g.5021126T>C | GRCh37 |
| NC_000012.10:g.4891387T>C | NCBI36 |
| NG_011815.1:g.7054T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.582T>C MANE Select | ENSP00000371985.3:p.Asp194= | |
| ENST00000543874.3:n.105+1488T>C | ||
| ENST00000639306.1:c.420T>C | ENSP00000492506.1:p.Asp140= | |
| ENST00000382545.3:c.582T>C | ENSP00000371985.3:p.Asp194= | |
| ENST00000541095.1:n.105+1488T>C | ||
| ENST00000543874.2:n.96+1488T>C | ||
| NM_000217.2:c.582T>C | NP_000208.2:p.Asp194= | |
| NM_000217.3:c.582T>C MANE Select | NP_000208.2:p.Asp194= |