Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210195326T= , CM000664.2:g.210195326T= | GRCh38 |
| NC_000002.11:g.211060050T= , CM000664.1:g.211060050T= | GRCh37 |
| NC_000002.10:g.210768295T= | NCBI36 |
| NG_008002.1:g.35166A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233710.4:c.997A= MANE Select | ENSP00000233710.3:p.Lys333= | |
| ENST00000652584.1:n.1225A= | ||
| ENST00000233710.3:c.997A= | ENSP00000233710.3:p.Lys333= | |
| NM_001608.3:c.997A= | NP_001599.1:p.Lys333= | |
| XM_005246517.3:c.934A= | XP_005246574.1:p.Lys312= | |
| XM_005246517.4:c.934A= | XP_005246574.1:p.Lys312= | |
| XM_017003955.1:c.574A= | XP_016859444.1:p.Lys192= | |
| NM_001608.4:c.997A= MANE Select | NP_001599.1:p.Lys333= |