Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32465684T>C , CM000668.2:g.32465684T>C | GRCh38 |
| NC_000006.11:g.32433461T>C , CM000668.1:g.32433461T>C | GRCh37 |
| NC_000006.10:g.32541439T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449413.1:n.77-5597A>G |