Linked Data
ClinVar Variation Id:
327505
ClinVar RCV Id:
RCV000297653
dbSNP Id:
rs574039587
gnomAD v2:
18-56934499-G-T
gnomAD v3:
18-59267267-G-T
gnomAD v4:
18-59267267-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59267267G>T , CM000680.2:g.59267267G>T | GRCh38 |
| NC_000018.9:g.56934499G>T , CM000680.1:g.56934499G>T | GRCh37 |
| NC_000018.8:g.55085479G>T | NCBI36 |
| NG_013031.1:g.11127C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*1737C>A MANE Select | ENSP00000334813.3:n.*1737C>A | |
| ENST00000256852.7:c.*2209C>A | ENSP00000256852.7:n.*2209C>A | |
| ENST00000334889.3:c.*1737C>A | ENSP00000334813.3:n.*1737C>A | |
| NM_013435.2:c.*1737C>A | NP_038463.2:n.*1737C>A | |
| NM_013435.3:c.*1737C>A MANE Select | NP_038463.2:n.*1737C>A |