Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524145C>A , CM000682.2:g.49524145C>A | GRCh38 |
| NC_000020.10:g.48140682C>A , CM000682.1:g.48140682C>A | GRCh37 |
| NC_000020.9:g.47574089C>A | NCBI36 |
| NG_007940.1:g.49026G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.768G>T MANE Select | NP_000952.1:p.Leu256= |
| ENST00000244043.5:c.768G>T MANE Select | ENSP00000244043.3:p.Leu256= |
| NM_000961.3:c.768G>T | NP_000952.1:p.Leu256= |
| ENST00000244043.4:c.768G>T | ENSP00000244043.3:p.Leu256= |
| ENST00000478971.1:n.589G>T |