Linked Data
ClinVar Variation Id:
327515
ClinVar RCV Id:
RCV000378406
dbSNP Id:
rs886054022
gnomAD v2:
18-56934871-C-A
gnomAD v3:
18-59267639-C-A
gnomAD v4:
18-59267639-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59267639C>A , CM000680.2:g.59267639C>A | GRCh38 |
| NC_000018.9:g.56934871C>A , CM000680.1:g.56934871C>A | GRCh37 |
| NC_000018.8:g.55085851C>A | NCBI36 |
| NG_013031.1:g.10755G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*1365G>T MANE Select | ENSP00000334813.3:n.*1365G>T | |
| ENST00000256852.7:c.*1837G>T | ENSP00000256852.7:n.*1837G>T | |
| ENST00000334889.3:c.*1365G>T | ENSP00000334813.3:n.*1365G>T | |
| NM_013435.2:c.*1365G>T | NP_038463.2:n.*1365G>T | |
| NM_013435.3:c.*1365G>T MANE Select | NP_038463.2:n.*1365G>T |