Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072935C= , CM000670.2:g.63072935C= | GRCh38 |
| NC_000008.10:g.63985494C= , CM000670.1:g.63985494C= | GRCh37 |
| NC_000008.9:g.64148048C= | NCBI36 |
| NG_016123.1:g.18119G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.358G= MANE Select | ENSP00000260116.4:p.Ala120= | |
| ENST00000260116.4:c.358G= | ENSP00000260116.4:p.Ala120= | |
| ENST00000521138.1:n.232+12883G= | ||
| NM_000370.3:c.358G= MANE Select | NP_000361.1:p.Ala120= | |
| XM_006716468.2:c.205-8619G= | XP_006716531.1:n.205-8619G= | |
| XM_006716468.4:c.205-8619G= | XP_006716531.1:n.205-8619G= |