Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26066323G>A , CM000663.2:g.26066323G>A | GRCh38 |
| NC_000001.10:g.26392814G>A , CM000663.1:g.26392814G>A | GRCh37 |
| NC_000001.9:g.26265401G>A | NCBI36 |
| NG_033268.1:g.6312C>T , LRG_757:g.6312C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032588.4:c.277C>T MANE Select | NP_115977.2:p.Gln93Ter |
| ENST00000374272.4:c.277C>T MANE Select | ENSP00000363390.3:p.Gln93Ter |
| NM_032588.3:c.277C>T , LRG_757t1:c.277C>T | NP_115977.2:p.Gln93Ter |
| ENST00000374272.3:c.277C>T | ENSP00000363390.3:p.Gln93Ter |
| ENST00000483052.1:n.1219C>T | |
| XM_017002559.2:c.277C>T | XP_016858048.1:p.Gln93Ter |