Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312749G>A , CM000673.2:g.118312749G>A | GRCh38 |
| NC_000011.9:g.118183464G>A , CM000673.1:g.118183464G>A | GRCh37 |
| NC_000011.8:g.117688674G>A | NCBI36 |
| NG_007383.1:g.13170G>A , LRG_38:g.13170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.235G>A MANE Select | ENSP00000354566.4:p.Glu79Lys | |
| ENST00000361763.8:c.235G>A | ENSP00000354566.4:p.Glu79Lys | |
| ENST00000526146.5:n.781G>A | ||
| ENST00000528435.5:n.788G>A | ||
| ENST00000528600.1:c.217G>A | ENSP00000433975.1:p.Glu73Lys | |
| ENST00000529713.5:n.341G>A | ||
| ENST00000531913.1:n.606G>A | ||
| NM_000733.3:c.235G>A , LRG_38t1:c.235G>A | NP_000724.1:p.Glu79Lys | |
| NM_000733.4:c.235G>A MANE Select | NP_000724.1:p.Glu79Lys |