Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98283179T>A , CM000665.2:g.98283179T>A | GRCh38 |
| NC_000003.11:g.98002023T>A , CM000665.1:g.98002023T>A | GRCh37 |
| NC_000003.10:g.99484713T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005482.2:c.277T>A MANE Select | NP_001005482.2:p.Ser93Thr |
| ENST00000355273.3:c.277T>A MANE Select | ENSP00000347418.3:p.Ser93Thr |
| NM_001005482.1:c.292T>A | NP_001005482.1:p.Ser98Thr |
| ENST00000355273.2:c.292T>A | ENSP00000347418.2:p.Ser98Thr |
| ENST00000356526.3:c.277T>A | ENSP00000373195.2:p.Ser93Thr |
| XR_001740814.1:n.71-3291A>T | |
| XR_924258.1:n.208-5704A>T | |
| XR_924258.2:n.216-5704A>T | |
| XR_924259.2:n.71-3291A>T | |
| XR_924260.1:n.208-5704A>T |