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