Linked Data
ClinVar Variation Id:
327510
ClinVar RCV Id:
RCV000272528
dbSNP Id:
rs886054019
gnomAD v2:
18-56934847-G-C
gnomAD v3:
18-59267615-G-C
gnomAD v4:
18-59267615-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59267615G>C , CM000680.2:g.59267615G>C | GRCh38 |
| NC_000018.9:g.56934847G>C , CM000680.1:g.56934847G>C | GRCh37 |
| NC_000018.8:g.55085827G>C | NCBI36 |
| NG_013031.1:g.10779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*1389C>G MANE Select | ENSP00000334813.3:n.*1389C>G | |
| ENST00000256852.7:c.*1861C>G | ENSP00000256852.7:n.*1861C>G | |
| ENST00000334889.3:c.*1389C>G | ENSP00000334813.3:n.*1389C>G | |
| NM_013435.2:c.*1389C>G | NP_038463.2:n.*1389C>G | |
| NM_013435.3:c.*1389C>G MANE Select | NP_038463.2:n.*1389C>G |