Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36105296A>T , CM000679.2:g.36105296A>T | GRCh38 |
| NC_000017.10:g.34432689A>T , CM000679.1:g.34432689A>T | GRCh37 |
| NC_000017.9:g.31456802A>T | NCBI36 |
| NG_033066.2:g.6471A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002984.4:c.263A>T MANE Select | NP_002975.1:p.Asp88Val |
| ENST00000615863.2:c.263A>T MANE Select | ENSP00000482259.1:p.Asp88Val |
| NM_002984.3:c.263A>T | NP_002975.1:p.Asp88Val |
| ENST00000613947.1:n.1456A>T | |
| ENST00000615863.1:c.263A>T | ENSP00000482259.1:p.Asp88Val |
| ENST00000621626.1:c.148A>T | ENSP00000480569.1:p.Thr50Ser |
| XR_001752866.1:n.1810-6389T>A |