Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.40353961C>T , CM000668.2:g.40353961C>T | GRCh38 |
| NC_000006.11:g.40321700C>T , CM000668.1:g.40321700C>T | GRCh37 |
| NC_000006.10:g.40429678C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038887.1:n.2046G>A |