Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29982433A>G , CM000668.2:g.29982433A>G | GRCh38 |
| NC_000006.11:g.29950210A>G , CM000668.1:g.29950210A>G | GRCh37 |
| NC_000006.10:g.30058189A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688495.1:n.361-5038T>C |