Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955651C>A , CM000670.2:g.24955651C>A | GRCh38 |
| NC_000008.10:g.24813165C>A , CM000670.1:g.24813165C>A | GRCh37 |
| NC_000008.9:g.24869082C>A | NCBI36 |
| NG_008492.1:g.5967G>T , LRG_259:g.5967G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.865G>T MANE Select | NP_006149.2:p.Glu289Ter |
| ENST00000610854.2:c.865G>T MANE Select | ENSP00000482169.2:p.Glu289Ter |
| NM_006158.4:c.865G>T , LRG_259t1:c.865G>T | NP_006149.2:p.Glu289Ter |
| ENST00000610854.1:c.865G>T | ENSP00000482169.1:p.Glu289Ter |
| ENST00000615973.1:n.1071G>T | |
| ENST00000619417.1:c.593-7G>T | ENSP00000483690.1:n.593-7G>T |