Linked Data
ClinVar Variation Id:
133464
dbSNP Id:
rs61754865
ExAC:
2:29455225 C / G
gnomAD v2:
2-29455225-C-G
gnomAD v3:
2-29232359-C-G
gnomAD v4:
2-29232359-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29232359C>G , CM000664.2:g.29232359C>G | GRCh38 |
| NC_000002.11:g.29455225C>G , CM000664.1:g.29455225C>G | GRCh37 |
| NC_000002.10:g.29308729C>G | NCBI36 |
| NG_009445.1:g.694208G>C , LRG_488:g.694208G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2577G>C MANE Select | ENSP00000373700.3:p.Glu859Asp | |
| ENST00000389048.7:c.2577G>C | ENSP00000373700.3:p.Glu859Asp | |
| ENST00000618119.4:c.1446G>C | ENSP00000482733.1:p.Glu482Asp | |
| NM_004304.4:c.2577G>C | NP_004295.2:p.Glu859Asp | |
| XR_001738688.2:n.3507G>C | ||
| NM_004304.5:c.2577G>C MANE Select | NP_004295.2:p.Glu859Asp |