Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31277757A>G , CM000668.2:g.31277757A>G | GRCh38 |
| NC_000006.11:g.31245534A>G , CM000668.1:g.31245534A>G | GRCh37 |
| NC_000006.10:g.31353513A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000494673.1:n.2186A>G |