Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155967272C= , CM000667.2:g.155967272C= | GRCh38 |
| NC_000005.9:g.155394282C= , CM000667.1:g.155394282C= | GRCh37 |
| NC_000005.8:g.155326860C= | NCBI36 |
| NG_008693.2:g.101929C= , LRG_205:g.101929C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517913.5:c.-282+96848C= | ENSP00000429378.1:n.-282+96848C= | |
| XM_017009723.2:c.-208+96848C= | XP_016865212.1:n.-208+96848C= | |
| XM_017009724.1:c.-207-156584C= | XP_016865213.1:n.-207-156584C= |