Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.80271654C>A , CM000678.2:g.80271654C>A | GRCh38 |
| NC_000016.9:g.80305551C>A , CM000678.1:g.80305551C>A | GRCh37 |
| NC_000016.8:g.78863052C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120307.1:n.253-111348G>T |