Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102824175A= , CM000672.2:g.102824175A= | GRCh38 |
| NC_000010.10:g.104583932A= , CM000672.1:g.104583932A= | GRCh37 |
| NC_000010.9:g.104573922A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000647664.1:c.*300+1843A= | ENSP00000498131.1:n.*300+1843A= |