Canonical Allele Identifier:
CA2519509229
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.129387028C>G , CM000667.2:g.129387028C>G | GRCh38 |
| NC_000005.9:g.128722721C>G , CM000667.1:g.128722721C>G | GRCh37 |
| NC_000005.8:g.128750620C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_427770.2:n.163-1420C>G | ||
| XR_948774.1:n.235-5623C>G | ||
| XR_001742463.1:n.4089-1420C>G | ||
| XR_001742464.1:n.2019-5623C>G | ||
| XR_001742465.1:n.401-1420C>G | ||
| XR_427770.3:n.337-1420C>G |