Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32461866T>A , CM000668.2:g.32461866T>A | GRCh38 |
| NC_000006.11:g.32429643T>A , CM000668.1:g.32429643T>A | GRCh37 |
| NC_000006.10:g.32537621T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449413.1:n.77-1779A>T |