Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111598G= , CM000674.2:g.91111598G= | GRCh38 |
| NC_000012.11:g.91505375G= , CM000674.1:g.91505375G= | GRCh37 |
| NC_000012.10:g.90029506G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.4:c.-222C= | ENSP00000266718.4:n.-222C= | |
| NM_002345.3:c.-222C= | NP_002336.1:n.-222C= |