Canonical Allele Identifier:
CA2581462312
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99401288T>G , CM000666.2:g.99401288T>G | GRCh38 |
| NC_000004.11:g.100322445T>G , CM000666.1:g.100322445T>G | GRCh37 |
| NC_000004.10:g.100541468T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001741777.1:n.756+1545A>C | |
| XR_427569.2:n.510+1545A>C | |
| XR_427569.3:n.1284+1545A>C | |
| XR_939020.1:n.510+1545A>C | |
| XR_939020.2:n.1284+1545A>C | |
| XR_939021.1:n.374+2803A>C |