Linked Data
ClinVar Variation Id:
2836041
ClinVar RCV Id:
RCV003689872
MyVariant Identifiers:
chr1:g.94467522C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001966C>T , CM000663.2:g.94001966C>T | GRCh38 |
| NC_000001.10:g.94467522C>T , CM000663.1:g.94467522C>T | GRCh37 |
| NC_000001.9:g.94240110C>T | NCBI36 |
| NG_009073.1:g.124184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6174G>A MANE Select | ENSP00000359245.3:p.Leu2058= | |
| ENST00000370225.3:c.6174G>A | ENSP00000359245.3:p.Leu2058= | |
| ENST00000465352.1:n.590G>A | ||
| ENST00000536513.5:c.2550G>A | ENSP00000439707.2:p.Leu850= | |
| NM_000350.2:c.6174G>A | NP_000341.2:p.Leu2058= | |
| NM_000350.3:c.6174G>A MANE Select | NP_000341.2:p.Leu2058= |