Linked Data
ClinVar Variation Id:
1134327
ClinVar RCV Id:
RCV001469171
dbSNP Id:
rs375495352
MyVariant Identifiers:
chr1:g.94463477G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997921G>T , CM000663.2:g.93997921G>T | GRCh38 |
| NC_000001.10:g.94463477G>T , CM000663.1:g.94463477G>T | GRCh37 |
| NC_000001.9:g.94236065G>T | NCBI36 |
| NG_009073.1:g.128229C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6669C>A MANE Select | ENSP00000359245.3:p.Leu2223= | |
| ENST00000370225.3:c.6669C>A | ENSP00000359245.3:p.Leu2223= | |
| ENST00000536513.5:c.3045C>A | ENSP00000439707.2:p.Leu1015= | |
| NM_000350.2:c.6669C>A | NP_000341.2:p.Leu2223= | |
| NM_000350.3:c.6669C>A MANE Select | NP_000341.2:p.Leu2223= |