Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127705783A= , CM000670.2:g.127705783A= | GRCh38 |
| NC_000008.10:g.128718028A= , CM000670.1:g.128718028A= | GRCh37 |
| NC_000008.9:g.128787210A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_117102.1:n.366-2540T= |