Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46385217G>T , CM000673.2:g.46385217G>T | GRCh38 |
| NC_000011.9:g.46406767G>T , CM000673.1:g.46406767G>T | GRCh37 |
| NC_000011.8:g.46363343G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000741.5:c.1341C>A MANE Select | NP_000732.2:p.Thr447= |
| ENST00000682254.1:c.1341C>A MANE Select | ENSP00000507561.1:p.Thr447= |
| NM_000741.3:c.1341C>A | NP_000732.2:p.Thr447= |
| NM_000741.4:c.1341C>A | NP_000732.2:p.Thr447= |
| NM_001366692.1:c.1341C>A | NP_001353621.1:p.Thr447= |
| NM_001366692.2:c.1341C>A | NP_001353621.1:p.Thr447= |
| ENST00000433765.3:c.1341C>A | ENSP00000409378.2:p.Thr447= |