Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56447843C= , CM000670.2:g.56447843C= | GRCh38 |
| NC_000008.10:g.57360402C= , CM000670.1:g.57360402C= | GRCh37 |
| NC_000008.9:g.57522956C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125813.1:n.694+1343C= |