Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141777C>T , CM000665.2:g.10141777C>T | GRCh38 |
| NC_000003.11:g.10183461C>T , CM000665.1:g.10183461C>T | GRCh37 |
| NC_000003.10:g.10158461C>T | NCBI36 |
| NG_008212.3:g.5143C>T , LRG_322:g.5143C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.-71C>T , LRG_322t1:c.-71C>T | NP_000542.1:n.-71C>T |
| NM_001354723.1:c.-71C>T | NP_001341652.1:n.-71C>T |
| NM_198156.2:c.-71C>T | NP_937799.1:n.-71C>T |
| ENST00000256474.2:c.-71C>T | ENSP00000256474.2:n.-71C>T |
| XM_011534078.1:c.-71C>T | XP_011532380.1:n.-71C>T |