Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30904710A= , CM000678.2:g.30904710A= | GRCh38 |
| NC_000016.9:g.30916031A= , CM000678.1:g.30916031A= | GRCh37 |
| NC_000016.8:g.30823532A= | NCBI36 |
| NG_009171.1:g.13104A= , LRG_408:g.13104A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412003.1:n.242T= |