Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160340550G>A , CM000667.2:g.160340550G>A | GRCh38 |
| NC_000005.9:g.159767557G>A , CM000667.1:g.159767557G>A | GRCh37 |
| NC_000005.8:g.159700135G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518764.1:n.315+1852C>T |