Linked Data
ClinVar Variation Id:
327520
ClinVar RCV Id:
RCV000335961
dbSNP Id:
rs535434206
gnomAD v2:
18-56934936-T-C
gnomAD v3:
18-59267704-T-C
gnomAD v4:
18-59267704-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59267704T>C , CM000680.2:g.59267704T>C | GRCh38 |
| NC_000018.9:g.56934936T>C , CM000680.1:g.56934936T>C | GRCh37 |
| NC_000018.8:g.55085916T>C | NCBI36 |
| NG_013031.1:g.10690A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*1300A>G MANE Select | ENSP00000334813.3:n.*1300A>G | |
| ENST00000256852.7:c.*1772A>G | ENSP00000256852.7:n.*1772A>G | |
| ENST00000334889.3:c.*1300A>G | ENSP00000334813.3:n.*1300A>G | |
| NM_013435.2:c.*1300A>G | NP_038463.2:n.*1300A>G | |
| NM_013435.3:c.*1300A>G MANE Select | NP_038463.2:n.*1300A>G |