Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89180495A= , CM000673.2:g.89180495A= | GRCh38 |
| NC_000011.9:g.88913663A= , CM000673.1:g.88913663A= | GRCh37 |
| NC_000011.8:g.88553311A= | NCBI36 |
| NG_008748.1:g.7624A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.819+1723A= MANE Select | NP_000363.1:n.819+1723A= |
| ENST00000263321.6:c.819+1723A= MANE Select | ENSP00000263321.4:n.819+1723A= |
| NM_000372.4:c.819+1723A= | NP_000363.1:n.819+1723A= |
| ENST00000263321.5:c.819+1723A= | ENSP00000263321.4:n.819+1723A= |
| ENST00000526139.1:n.880+1723A= | |
| XM_011542970.1:c.819+1723A= | XP_011541272.1:n.819+1723A= |
| XM_011542970.2:c.819+1723A= | XP_011541272.1:n.819+1723A= |
| XR_001748321.1:n.2718-66962T= | |
| XR_001748322.1:n.2733-66962T= |