Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.11975871A= , CM000686.2:g.11975871A= | GRCh38 |
| NC_000024.9:g.14096577A= , CM000686.1:g.14096577A= | GRCh37 |
| NC_000024.8:g.12606577A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000420610.1:n.5150+2832A= |