Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31394747A>C , CM000668.2:g.31394747A>C | GRCh38 |
| NC_000006.11:g.31362524A>C , CM000668.1:g.31362524A>C | GRCh37 |
| NC_000006.10:g.31470503A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241998.3:n.898T>G | ||
| NR_148222.1:n.888T>G | ||
| NR_148223.1:n.921T>G |