Linked Data
ClinVar Variation Id:
1509207
ClinVar RCV Id:
RCV002017730
dbSNP Id:
rs1836454464
MyVariant Identifiers:
chr9:g.133352548C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352548C>T , CM000671.2:g.133352548C>T | GRCh38 |
| NC_000009.10:g.135209224C>T | NCBI36 |
| NG_008477.1:g.8959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.649G>A MANE Select | ENSP00000361042.3:p.Val217Ile | |
| ENST00000371974.7:c.649G>A | ENSP00000361042.3:p.Val217Ile | |
| ENST00000437995.1:n.559G>A | ||
| ENST00000495952.5:n.639G>A | ||
| ENST00000615505.4:c.322G>A | ENSP00000482067.1:p.Val108Ile | |
| NM_001280787.1:c.322G>A | NP_001267716.1:p.Val108Ile | |
| NM_003172.3:c.649G>A | NP_003163.1:p.Val217Ile | |
| XM_011518942.1:c.322G>A | XP_011517244.1:p.Val108Ile | |
| NM_003172.4:c.649G>A MANE Select | NP_003163.1:p.Val217Ile |