Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286445T= , CM000667.2:g.10286445T= | GRCh38 |
| NC_000005.9:g.10286557T= , CM000667.1:g.10286557T= | GRCh37 |
| NC_000005.8:g.10339557T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.375A= MANE Select | ENSP00000296658.3:p.Lys125= | |
| ENST00000296658.3:c.375A= | ENSP00000296658.3:p.Lys125= | |
| ENST00000506821.1:n.629A= | ||
| ENST00000510532.5:n.443A= | ||
| ENST00000511963.5:n.483A= | ||
| NM_138809.3:c.375A= | NP_620164.1:p.Lys125= | |
| NM_138809.4:c.375A= MANE Select | NP_620164.1:p.Lys125= |