Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.132645153G>A , CM000668.2:g.132645153G>A | GRCh38 |
| NC_000006.11:g.132966292G>A , CM000668.1:g.132966292G>A | GRCh37 |
| NC_000006.10:g.133007985G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138327.4:c.851C>T MANE Select | NP_612200.1:p.Thr284Ile |
| ENST00000275216.3:c.851C>T MANE Select | ENSP00000275216.1:p.Thr284Ile |
| NM_138327.1:c.851C>T | NP_612200.1:p.Thr284Ile |
| NM_138327.2:c.851C>T | NP_612200.1:p.Thr284Ile |
| NM_138327.3:c.851C>T | NP_612200.1:p.Thr284Ile |
| ENST00000275216.1:c.851C>T | ENSP00000275216.1:p.Thr284Ile |
| ENST00000275216.2:c.851C>T | ENSP00000275216.1:p.Thr284Ile |