Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141773C>A , CM000665.2:g.10141773C>A | GRCh38 |
| NC_000003.11:g.10183457C>A , CM000665.1:g.10183457C>A | GRCh37 |
| NC_000003.10:g.10158457C>A | NCBI36 |
| NG_008212.3:g.5139C>A , LRG_322:g.5139C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.-75C>A , LRG_322t1:c.-75C>A | NP_000542.1:n.-75C>A |
| NM_001354723.1:c.-75C>A | NP_001341652.1:n.-75C>A |
| NM_198156.2:c.-75C>A | NP_937799.1:n.-75C>A |
| ENST00000256474.2:c.-75C>A | ENSP00000256474.2:n.-75C>A |
| XM_011534078.1:c.-75C>A | XP_011532380.1:n.-75C>A |