Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100419834A>C , CM000674.2:g.100419834A>C | GRCh38 |
| NC_000012.11:g.100813612A>C , CM000674.1:g.100813612A>C | GRCh37 |
| NC_000012.10:g.99337743A>C | NCBI36 |
| NG_021175.1:g.67756A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.1445A>C MANE Select | NP_647480.1:p.Asn482Thr |
| ENST00000323346.10:c.1445A>C MANE Select | ENSP00000316909.4:p.Asn482Thr |
| NM_001145288.1:c.1295A>C | NP_001138760.1:p.Asn432Thr |
| NM_001145288.2:c.1295A>C | NP_001138760.1:p.Asn432Thr |
| NM_139319.2:c.1445A>C | NP_647480.1:p.Asn482Thr |
| ENST00000323346.9:c.1445A>C | ENSP00000316909.4:p.Asn482Thr |
| ENST00000392989.3:c.1295A>C | ENSP00000376715.3:p.Asn432Thr |
| ENST00000552697.1:n.338A>C |