Linked Data
ClinVar Variation Id:
126889
ClinVar RCV Id:
RCV000128606
dbSNP Id:
rs2235245
gnomAD v2:
20-7912942-C-G
gnomAD v3:
20-7932295-C-G
gnomAD v4:
20-7932295-C-G
PubMed:
PMID:24886237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7932295C>G , CM000682.2:g.7932295C>G | GRCh38 |
| NC_000020.10:g.7912942C>G , CM000682.1:g.7912942C>G | GRCh37 |
| NC_000020.9:g.7860942C>G | NCBI36 |
| NG_046733.1:g.13152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378789.4:c.289+2189G>C MANE Select | ENSP00000368066.3:n.289+2189G>C | |
| ENST00000378789.3:c.289+2189G>C | ENSP00000368066.3:n.289+2189G>C | |
| NM_017545.2:c.289+2189G>C | NP_060015.1:n.289+2189G>C | |
| NM_017545.3:c.289+2189G>C MANE Select | NP_060015.1:n.289+2189G>C |