Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.101056219T>A , CM000676.2:g.101056219T>A | GRCh38 |
| NC_000014.8:g.101522556T>A , CM000676.1:g.101522556T>A | GRCh37 |
| NC_000014.7:g.100592309T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_036133.1:n.1T>A |