Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111846A= , CM000670.2:g.118111846A= | GRCh38 |
| NC_000008.10:g.119124085A= , CM000670.1:g.119124085A= | GRCh37 |
| NC_000008.9:g.119193266A= | NCBI36 |
| NG_007455.2:g.4974T= , LRG_493:g.4974T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.6:c.-800T= | ENSP00000367446.2:n.-800T= |