Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89191199C= , CM000673.2:g.89191199C= | GRCh38 |
| NC_000011.9:g.88924367C= , CM000673.1:g.88924367C= | GRCh37 |
| NC_000011.8:g.88564015C= | NCBI36 |
| NG_008748.1:g.18328C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.820-3C= MANE Select | NP_000363.1:n.820-3C= |
| ENST00000263321.6:c.820-3C= MANE Select | ENSP00000263321.4:n.820-3C= |
| NM_000372.4:c.820-3C= | NP_000363.1:n.820-3C= |
| ENST00000263321.5:c.820-3C= | ENSP00000263321.4:n.820-3C= |
| ENST00000526139.1:n.881-3C= | |
| XM_011542970.1:c.820-3C= | XP_011541272.1:n.820-3C= |
| XM_011542970.2:c.820-3C= | XP_011541272.1:n.820-3C= |
| XR_001748321.1:n.2718-77666G= | |
| XR_001748322.1:n.2733-77666G= |