Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99149816G>A , CM000666.2:g.99149816G>A | GRCh38 |
| NC_000004.11:g.100070973G>A , CM000666.1:g.100070973G>A | GRCh37 |
| NC_000004.10:g.100289996G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037884.1:n.680-4729G>A | |
| ENST00000504581.1:n.170-7036C>T |