Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31398818C>A , CM000668.2:g.31398818C>A | GRCh38 |
| NC_000006.11:g.31366595C>A , CM000668.1:g.31366595C>A | GRCh37 |
| NC_000006.10:g.31474574C>A | NCBI36 |
| NG_034139.1:g.4040C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148222.1:n.417+1236G>T |