Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89191358C= , CM000673.2:g.89191358C= | GRCh38 |
| NC_000011.9:g.88924526C= , CM000673.1:g.88924526C= | GRCh37 |
| NC_000011.8:g.88564174C= | NCBI36 |
| NG_008748.1:g.18487C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.976C= MANE Select | NP_000363.1:p.Gln326= |
| ENST00000263321.6:c.976C= MANE Select | ENSP00000263321.4:p.Gln326= |
| NM_000372.4:c.976C= | NP_000363.1:p.Gln326= |
| ENST00000263321.5:c.976C= | ENSP00000263321.4:p.Gln326= |
| ENST00000526139.1:n.1037C= | |
| XM_011542970.1:c.976C= | XP_011541272.1:p.Gln326= |
| XM_011542970.2:c.976C= | XP_011541272.1:p.Gln326= |
| XR_001748321.1:n.2718-77825G= | |
| XR_001748322.1:n.2733-77825G= |