Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072980T>A , CM000670.2:g.63072980T>A | GRCh38 |
| NC_000008.10:g.63985539T>A , CM000670.1:g.63985539T>A | GRCh37 |
| NC_000008.9:g.64148093T>A | NCBI36 |
| NG_016123.1:g.18074A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.313A>T MANE Select | ENSP00000260116.4:p.Arg105Ter | |
| ENST00000260116.4:c.313A>T | ENSP00000260116.4:p.Arg105Ter | |
| ENST00000521138.1:n.232+12838A>T | ||
| NM_000370.3:c.313A>T MANE Select | NP_000361.1:p.Arg105Ter | |
| XM_006716468.2:c.205-8664A>T | XP_006716531.1:n.205-8664A>T | |
| XM_006716468.4:c.205-8664A>T | XP_006716531.1:n.205-8664A>T |