Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32465080A>G , CM000668.2:g.32465080A>G | GRCh38 |
| NC_000006.11:g.32432857A>G , CM000668.1:g.32432857A>G | GRCh37 |
| NC_000006.10:g.32540835A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449413.1:n.77-4993T>C |