Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780659C>A , CM000667.2:g.78780659C>A | GRCh38 |
| NC_000005.9:g.78076482C>A , CM000667.1:g.78076482C>A | GRCh37 |
| NC_000005.8:g.78112238C>A | NCBI36 |
| NG_007089.1:g.210876G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.5:c.1340G>T MANE Select | NP_000037.2:p.Cys447Phe |
| ENST00000264914.10:c.1340G>T MANE Select | ENSP00000264914.4:p.Cys447Phe |
| NM_000046.3:c.1340G>T | NP_000037.2:p.Cys447Phe |
| NM_000046.4:c.1340G>T | NP_000037.2:p.Cys447Phe |
| ENST00000264914.8:c.1340G>T | ENSP00000264914.4:p.Cys447Phe |
| ENST00000521011.1:n.305G>T | |
| XM_011543390.1:c.1340G>T | XP_011541692.1:p.Cys447Phe |