Linked Data
ClinVar Variation Id:
14012
ClinVar RCV Id:
RCV000015050
dbSNP Id:
rs41279104
gnomAD v2:
12-117877485-C-T
gnomAD v3:
12-117439680-C-T
gnomAD v4:
12-117439680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117439680C>T , CM000674.2:g.117439680C>T | GRCh38 |
| NC_000012.11:g.117877485C>T , CM000674.1:g.117877485C>T | GRCh37 |
| NC_000012.10:g.116361868C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000549189.1:n.470+12021G>A |