Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32465435A>G , CM000668.2:g.32465435A>G | GRCh38 |
| NC_000006.11:g.32433212A>G , CM000668.1:g.32433212A>G | GRCh37 |
| NC_000006.10:g.32541190A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449413.1:n.77-5348T>C |