Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594965C>T , CM000679.2:g.56594965C>T | GRCh38 |
| NC_000017.10:g.54672326C>T , CM000679.1:g.54672326C>T | GRCh37 |
| NC_000017.9:g.52027325C>T | NCBI36 |
| NG_011958.1:g.6267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*43C>T MANE Select | ENSP00000328181.4:n.*43C>T | |
| ENST00000332822.4:c.*43C>T | ENSP00000328181.4:n.*43C>T | |
| NM_005450.4:c.*43C>T | NP_005441.1:n.*43C>T | |
| NM_005450.6:c.*43C>T MANE Select | NP_005441.1:n.*43C>T |