Linked Data
ClinVar Variation Id:
143076
dbSNP Id:
rs148460146
ExAC:
1:94471025 C / T
gnomAD v2:
1-94471025-C-T
gnomAD v3:
1-94005469-C-T
gnomAD v4:
1-94005469-C-T
COSMIC:
COSM913442
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005469C>T , CM000663.2:g.94005469C>T | GRCh38 |
| NC_000001.10:g.94471025C>T , CM000663.1:g.94471025C>T | GRCh37 |
| NC_000001.9:g.94243613C>T | NCBI36 |
| NG_009073.1:g.120681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6119G>A MANE Select | ENSP00000359245.3:p.Arg2040Gln | |
| ENST00000370225.3:c.6119G>A | ENSP00000359245.3:p.Arg2040Gln | |
| ENST00000465352.1:n.535G>A | ||
| ENST00000484388.1:n.233G>A | ||
| ENST00000536513.5:c.2495G>A | ENSP00000439707.2:p.Arg832Gln | |
| NM_000350.2:c.6119G>A | NP_000341.2:p.Arg2040Gln | |
| NM_000350.3:c.6119G>A MANE Select | NP_000341.2:p.Arg2040Gln |