Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28741956G= , CM000684.2:g.28741956G= | GRCh38 |
| NC_000022.10:g.29137944G= , CM000684.1:g.29137944G= | GRCh37 |
| NC_000022.9:g.27467944G= | NCBI36 |
| NG_008150.1:g.4879C= | |
| NG_008150.2:g.4911C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000416671.5:c.-194C= | ENSP00000402225.1:n.-194C= |