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