Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132655393T>G , CM000667.2:g.132655393T>G | GRCh38 |
| NC_000005.9:g.131991085T>G , CM000667.1:g.131991085T>G | GRCh37 |
| NC_000005.8:g.132018984T>G | NCBI36 |
| NG_012090.1:g.2221T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_132125.1:n.104+658A>C | |
| NR_132126.1:n.174+326A>C |