Linked Data
dbSNP Id:
rs983532901
gnomAD v4:
12-56041665-C-A
MyVariant Identifiers:
chr12:g.56435449C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041665C>A , CM000674.2:g.56041665C>A | GRCh38 |
| NC_000012.11:g.56435449C>A , CM000674.1:g.56435449C>A | GRCh37 |
| NC_000012.10:g.54721716C>A | NCBI36 |
| NG_023201.1:g.4764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-146C>A | ENSP00000348849.5:n.-356-146C>A | |
| XR_944989.1:n.48G>T | ||
| XR_944990.1:n.48G>T | ||
| XR_944989.3:n.339G>T | ||
| XR_944990.3:n.339G>T |