Canonical Allele Identifier:
CA2519514740
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8555957A>G , CM000686.2:g.8555957A>G | GRCh38 |
| NC_000024.9:g.8423998A>G , CM000686.1:g.8423998A>G | GRCh37 |
| NC_000024.8:g.8483998A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000624593.1:c.*23-6162T>C | ENSP00000485106.1:n.*23-6162T>C |