Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128529890G= , CM000670.2:g.128529890G= | GRCh38 |
| NC_000008.10:g.129542136G= , CM000670.1:g.129542136G= | GRCh37 |
| NC_000008.9:g.129611318G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_121672.1:n.508+31180C= |