Linked Data
ClinVar Variation Id:
327526
ClinVar RCV Id:
RCV000346539
dbSNP Id:
rs886054024
gnomAD v4:
18-59268676-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59268676T>C , CM000680.2:g.59268676T>C | GRCh38 |
| NC_000018.9:g.56935908T>C , CM000680.1:g.56935908T>C | GRCh37 |
| NC_000018.8:g.55086888T>C | NCBI36 |
| NG_013031.1:g.9718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*328A>G MANE Select | ENSP00000334813.3:n.*328A>G | |
| ENST00000256852.7:c.*800A>G | ENSP00000256852.7:n.*800A>G | |
| ENST00000334889.3:c.*328A>G | ENSP00000334813.3:n.*328A>G | |
| NM_013435.2:c.*328A>G | NP_038463.2:n.*328A>G | |
| NM_013435.3:c.*328A>G MANE Select | NP_038463.2:n.*328A>G |