Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41382121C>T , CM000684.2:g.41382121C>T | GRCh38 |
| NC_000022.10:g.41778125C>T , CM000684.1:g.41778125C>T | GRCh37 |
| NC_000022.9:g.40108071C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003216.4:c.77C>T MANE Select | NP_003207.1:p.Ala26Val |
| ENST00000266304.9:c.77C>T MANE Select | ENSP00000266304.4:p.Ala26Val |
| NM_001145398.2:c.68-5230C>T | NP_001138870.1:n.68-5230C>T |
| NM_001145398.3:c.68-5230C>T | NP_001138870.1:n.68-5230C>T |
| NM_003216.3:c.77C>T | NP_003207.1:p.Ala26Val |
| ENST00000266304.8:c.77C>T | ENSP00000266304.4:p.Ala26Val |
| ENST00000406644.7:c.68-5230C>T | ENSP00000385256.3:n.68-5230C>T |