Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129633397C= , CM000670.2:g.129633397C= | GRCh38 |
| NC_000008.10:g.130645643C= , CM000670.1:g.130645643C= | GRCh37 |
| NC_000008.9:g.130714825C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_130917.1:n.312+46531G= |