Linked Data
ClinVar Variation Id:
1940323
ClinVar RCV Id:
RCV002639288
dbSNP Id:
rs753235603
ExAC:
2:29294012 A / C
gnomAD v2:
2-29294012-A-C
gnomAD v3:
2-29071146-A-C
gnomAD v4:
2-29071146-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071146A>C , CM000664.2:g.29071146A>C | GRCh38 |
| NC_000002.11:g.29294012A>C , CM000664.1:g.29294012A>C | GRCh37 |
| NC_000002.10:g.29147516A>C | NCBI36 |
| NG_021427.1:g.8116T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3116T>G MANE Select | ENSP00000332809.4:p.Leu1039Arg | |
| ENST00000331664.5:c.3116T>G | ENSP00000332809.4:p.Leu1039Arg | |
| NM_001029883.2:c.3116T>G | NP_001025054.1:p.Leu1039Arg | |
| XM_011532826.1:c.3116T>G | XP_011531128.1:p.Leu1039Arg | |
| XR_939901.1:n.185+1979A>C | ||
| XR_939902.1:n.173+1991A>C | ||
| NM_001029883.3:c.3116T>G MANE Select | NP_001025054.1:p.Leu1039Arg |