Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612800C>A , CM000670.2:g.10612800C>A | GRCh38 |
| NC_000008.10:g.10470310C>A , CM000670.1:g.10470310C>A | GRCh37 |
| NC_000008.9:g.10507720C>A | NCBI36 |
| NG_028035.1:g.47308G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1298G>T MANE Select | ENSP00000371923.3:p.Arg433Leu | |
| ENST00000382483.3:c.1298G>T | ENSP00000371923.3:p.Arg433Leu | |
| NM_178857.5:c.1298G>T | NP_849188.4:p.Arg433Leu | |
| NM_178857.6:c.1298G>T MANE Select | NP_849188.4:p.Arg433Leu |