Linked Data
ClinVar Variation Id:
309491
ClinVar RCV Id:
RCV000274693
dbSNP Id:
rs771547026
gnomAD v2:
12-52708308-A-C
gnomAD v3:
12-52314524-A-C
gnomAD v4:
12-52314524-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52314524A>C , CM000674.2:g.52314524A>C | GRCh38 |
| NC_000012.11:g.52708308A>C , CM000674.1:g.52708308A>C | GRCh37 |
| NC_000012.10:g.50994575A>C | NCBI36 |
| NG_008352.1:g.11875T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293670.3:c.*107T>G MANE Select | ENSP00000293670.3:n.*107T>G | |
| NM_002282.3:c.*107T>G MANE Select | NP_002273.3:n.*107T>G |