Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155875572G= , CM000667.2:g.155875572G= | GRCh38 |
| NC_000005.9:g.155302582G= , CM000667.1:g.155302582G= | GRCh37 |
| NC_000005.8:g.155235160G= | NCBI36 |
| NG_008693.2:g.10229G= , LRG_205:g.10229G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000517913.5:c.-282+5148G= | ENSP00000429378.1:n.-282+5148G= |
| XM_017009723.2:c.-208+5148G= | XP_016865212.1:n.-208+5148G= |
| XM_017009724.1:c.-208+146582G= | XP_016865213.1:n.-208+146582G= |