Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169509877C>T , CM000664.2:g.169509877C>T | GRCh38 |
| NC_000002.11:g.170366387C>T , CM000664.1:g.170366387C>T | GRCh37 |
| NC_000002.10:g.170074633C>T | NCBI36 |
| NG_042051.1:g.5176C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.99C>T MANE Select | NP_006054.2:p.Ile33= |
| ENST00000284669.2:c.99C>T MANE Select | ENSP00000284669.1:p.Ile33= |
| NM_006063.2:c.99C>T | NP_006054.2:p.Ile33= |
| ENST00000284669.1:c.99C>T | ENSP00000284669.1:p.Ile33= |
| ENST00000513963.1:c.925-4697C>T | ENSP00000424363.1:n.925-4697C>T |