Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55130436T>C , CM000674.2:g.55130436T>C | GRCh38 |
| NC_000012.11:g.55524220T>C , CM000674.1:g.55524220T>C | GRCh37 |
| NC_000012.10:g.53810487T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005243.2:c.602T>C MANE Select | NP_001005243.2:p.Ile201Thr |
| ENST00000641329.1:c.602T>C MANE Select | ENSP00000493006.1:p.Ile201Thr |
| NM_001005243.1:c.668T>C | NP_001005243.1:p.Ile223Thr |
| ENST00000305377.5:c.668T>C | ENSP00000307598.4:p.Ile223Thr |
| ENST00000641353.1:n.196-1990T>C | |
| ENST00000641374.1:c.602T>C | ENSP00000493328.1:p.Ile201Thr |
| ENST00000641982.1:n.183+539T>C |