Linked Data
ClinVar Variation Id:
309493
ClinVar RCV Id:
RCV000388907
dbSNP Id:
rs535186700
ExAC:
12:52708392 C / A
gnomAD v2:
12-52708392-C-A
gnomAD v3:
12-52314608-C-A
gnomAD v4:
12-52314608-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52314608C>A , CM000674.2:g.52314608C>A | GRCh38 |
| NC_000012.11:g.52708392C>A , CM000674.1:g.52708392C>A | GRCh37 |
| NC_000012.10:g.50994659C>A | NCBI36 |
| NG_008352.1:g.11791G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293670.3:c.*23G>T MANE Select | ENSP00000293670.3:n.*23G>T | |
| NM_002282.3:c.*23G>T MANE Select | NP_002273.3:n.*23G>T |