Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16353327G>A , CM000679.2:g.16353327G>A | GRCh38 |
| NC_000017.10:g.16256641G>A , CM000679.1:g.16256641G>A | GRCh37 |
| NC_000017.9:g.16197366G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181716.3:c.110C>T MANE Select | NP_859067.2:p.Thr37Ile |
| ENST00000299736.5:c.110C>T MANE Select | ENSP00000299736.4:p.Thr37Ile |
| NM_181716.2:c.110C>T | NP_859067.2:p.Thr37Ile |
| ENST00000299736.4:c.110C>T | ENSP00000299736.4:p.Thr37Ile |
| ENST00000476243.5:c.110C>T | ENSP00000462377.2:p.Thr37Ile |
| ENST00000582062.1:n.29+301C>T | |
| ENST00000584214.1:n.119C>T |