Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206293C>T , CM000673.2:g.119206293C>T | GRCh38 |
| NC_000011.9:g.119077003C>T , CM000673.1:g.119077003C>T | GRCh37 |
| NC_000011.8:g.118582213C>T | NCBI36 |
| NG_016808.1:g.5014C>T , LRG_608:g.5014C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.3:c.-125C>T , LRG_608t1:c.-125C>T | NP_005179.2:n.-125C>T |
| ENST00000264033.5:c.-125C>T | ENSP00000264033.3:n.-125C>T |
| XM_011543057.1:c.-125C>T | XP_011541359.1:n.-125C>T |