Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63499160C>T , CM000680.2:g.63499160C>T | GRCh38 |
| NC_000018.9:g.61166393C>T , CM000680.1:g.61166393C>T | GRCh37 |
| NC_000018.8:g.59317373C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002639.5:c.608C>T MANE Select | NP_002630.2:p.Thr203Met |
| ENST00000382771.9:c.608C>T MANE Select | ENSP00000372221.4:p.Thr203Met |
| NM_002639.4:c.608C>T | NP_002630.2:p.Thr203Met |
| ENST00000382771.8:c.608C>T | ENSP00000372221.4:p.Thr203Met |
| ENST00000464346.1:n.290C>T | |
| ENST00000465652.5:n.281C>T | |
| XM_006722483.1:c.95C>T | XP_006722546.1:p.Thr32Met |
| XM_006722483.3:c.95C>T | XP_006722546.1:p.Thr32Met |