Canonical Allele Identifier:
CA12521200
Community Standard Title: NC_000007.14:g.130782095A>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130782095A>G , CM000669.2:g.130782095A>G | GRCh38 |
| NC_000007.13:g.130466854A>G , CM000669.1:g.130466854A>G | GRCh37 |
| NC_000007.12:g.130117394A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_927976.1:n.191-725A>G | |
| XR_927976.2:n.179-725A>G | |
| XR_927977.1:n.190+44105A>G | |
| XR_927977.2:n.178+44105A>G | |
| XR_927978.1:n.190+44105A>G | |
| XR_927978.2:n.178+44105A>G |