Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128531703G= , CM000670.2:g.128531703G= | GRCh38 |
| NC_000008.10:g.129543949G= , CM000670.1:g.129543949G= | GRCh37 |
| NC_000008.9:g.129613131G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_121672.1:n.508+29367C= |