Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89227932C>A , CM000673.2:g.89227932C>A | GRCh38 |
| NC_000011.9:g.88961100C>A , CM000673.1:g.88961100C>A | GRCh37 |
| NC_000011.8:g.88600748C>A | NCBI36 |
| NG_008748.1:g.55061C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.1146C>A MANE Select | NP_000363.1:p.Asn382Lys |
| ENST00000263321.6:c.1146C>A MANE Select | ENSP00000263321.4:p.Asn382Lys |
| NM_000372.4:c.1146C>A | NP_000363.1:p.Asn382Lys |
| ENST00000263321.5:c.1146C>A | ENSP00000263321.4:p.Asn382Lys |
| XM_011542970.1:c.1146C>A | XP_011541272.1:p.Asn382Lys |
| XM_011542970.2:c.1146C>A | XP_011541272.1:p.Asn382Lys |
| XR_001748321.1:n.2717+43528G>T | |
| XR_001748322.1:n.2732+43528G>T |