Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312769G= , CM000673.2:g.118312769G= | GRCh38 |
| NC_000011.9:g.118183484G= , CM000673.1:g.118183484G= | GRCh37 |
| NC_000011.8:g.117688694G= | NCBI36 |
| NG_007383.1:g.13190G= , LRG_38:g.13190G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.255G= MANE Select | ENSP00000354566.4:p.Lys85= | |
| ENST00000361763.8:c.255G= | ENSP00000354566.4:p.Lys85= | |
| ENST00000526146.5:n.801G= | ||
| ENST00000528435.5:n.808G= | ||
| ENST00000528600.1:c.237G= | ENSP00000433975.1:p.Lys79= | |
| ENST00000529713.5:n.361G= | ||
| ENST00000531913.1:n.626G= | ||
| NM_000733.3:c.255G= , LRG_38t1:c.255G= | NP_000724.1:p.Lys85= | |
| NM_000733.4:c.255G= MANE Select | NP_000724.1:p.Lys85= |