Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7982508C>T , CM000682.2:g.7982508C>T | GRCh38 |
| NC_000020.10:g.7963155C>T , CM000682.1:g.7963155C>T | GRCh37 |
| NC_000020.9:g.7911155C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021156.4:c.793G>A MANE Select | NP_066979.2:p.Glu265Lys |
| ENST00000246024.7:c.793G>A MANE Select | ENSP00000246024.2:p.Glu265Lys |
| NM_021156.3:c.793G>A | NP_066979.2:p.Glu265Lys |
| ENST00000246024.6:c.793G>A | ENSP00000246024.2:p.Glu265Lys |