Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32465415C>T , CM000668.2:g.32465415C>T | GRCh38 |
| NC_000006.11:g.32433192C>T , CM000668.1:g.32433192C>T | GRCh37 |
| NC_000006.10:g.32541170C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449413.1:n.77-5328G>A |