Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20654663G>A , CM000663.2:g.20654663G>A | GRCh38 |
| NC_000001.10:g.20981156G>A , CM000663.1:g.20981156G>A | GRCh37 |
| NC_000001.9:g.20853743G>A | NCBI36 |
| NG_032064.1:g.11882C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005216.5:c.596C>T MANE Select | NP_005207.3:p.Thr199Met |
| ENST00000602624.7:c.596C>T MANE Select | ENSP00000473655.2:p.Thr199Met |
| NM_005216.4:c.647C>T | NP_005207.2:p.Thr216Met |
| ENST00000375048.7:c.647C>T | ENSP00000364188.3:p.Thr216Met |
| ENST00000415136.6:c.647C>T | ENSP00000399457.3:p.Thr216Met |
| ENST00000602624.6:c.596C>T | ENSP00000473655.1:p.Thr199Met |