Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332658C>A , CM000673.2:g.47332658C>A | GRCh38 |
| NC_000011.9:g.47354209C>A , CM000673.1:g.47354209C>A | GRCh37 |
| NC_000011.8:g.47310785C>A | NCBI36 |
| NG_007667.1:g.25045G>T , LRG_386:g.25045G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.3535G>T , LRG_386t1:c.3535G>T MANE Select | NP_000247.2:p.Glu1179Ter |
| ENST00000545968.6:c.3535G>T MANE Select | ENSP00000442795.1:p.Glu1179Ter |
| ENST00000256993.8:c.3535G>T | ENSP00000256993.5:p.Glu1179Ter |
| ENST00000399249.6:c.3535G>T | ENSP00000382193.2:p.Glu1179Ter |
| ENST00000545968.5:c.3535G>T | ENSP00000442795.1:p.Glu1179Ter |
| XM_011520117.1:c.3517G>T | XP_011518419.1:p.Glu1173Ter |
| XM_011520118.1:c.3454G>T | XP_011518420.1:p.Glu1152Ter |