Linked Data
ClinVar Variation Id:
2083342
ClinVar RCV Id:
RCV003002457
dbSNP Id:
rs143532013
ExAC:
1:12304645 G / A
gnomAD v2:
1-12304645-G-A
gnomAD v3:
1-12244588-G-A
gnomAD v4:
1-12244588-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12244588G>A , CM000663.2:g.12244588G>A | GRCh38 |
| NC_000001.10:g.12304645G>A , CM000663.1:g.12304645G>A | GRCh37 |
| NC_000001.9:g.12227232G>A | NCBI36 |
| NG_056877.1:g.19550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.418G>A MANE Select | ENSP00000478104.1:p.Val140Ile | |
| ENST00000476169.1:n.65G>A | ||
| ENST00000613099.4:c.418G>A | ENSP00000482233.1:p.Val140Ile | |
| ENST00000620676.4:c.418G>A | ENSP00000478104.1:p.Val140Ile | |
| NM_015378.3:c.418G>A | NP_056193.2:p.Val140Ile | |
| NM_018156.3:c.418G>A | NP_060626.2:p.Val140Ile | |
| NM_015378.4:c.418G>A MANE Select | NP_056193.2:p.Val140Ile | |
| NM_018156.4:c.418G>A | NP_060626.2:p.Val140Ile |