Linked Data
dbSNP Id:
rs1302909292
gnomAD v2:
12-56435499-G-A
gnomAD v3:
12-56041715-G-A
gnomAD v4:
12-56041715-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041715G>A , CM000674.2:g.56041715G>A | GRCh38 |
| NC_000012.11:g.56435499G>A , CM000674.1:g.56435499G>A | GRCh37 |
| NC_000012.10:g.54721766G>A | NCBI36 |
| NG_023201.1:g.4814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-96G>A | ENSP00000348849.5:n.-356-96G>A | |
| XR_944989.3:n.289C>T | ||
| XR_944990.3:n.289C>T |