Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713606C>T , CM000667.2:g.74713606C>T | GRCh38 |
| NC_000005.9:g.74009431C>T , CM000667.1:g.74009431C>T | GRCh37 |
| NC_000005.8:g.74045187C>T | NCBI36 |
| NG_009770.1:g.33463C>T | |
| NG_009770.2:g.78584C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.872C>T MANE Select | NP_000512.2:p.Thr291Ile |
| ENST00000261416.12:c.872C>T MANE Select | ENSP00000261416.7:p.Thr291Ile |
| NM_000521.3:c.872C>T | NP_000512.1:p.Thr291Ile |
| NM_001292004.1:c.197C>T | NP_001278933.1:p.Thr66Ile |
| NM_001292004.2:c.197C>T | NP_001278933.1:p.Thr66Ile |
| ENST00000261416.11:c.872C>T | ENSP00000261416.7:p.Thr291Ile |
| ENST00000504459.5:n.69C>T | |
| ENST00000511181.5:c.197C>T | ENSP00000426285.1:p.Thr66Ile |