Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22148479A>G , CM000670.2:g.22148479A>G | GRCh38 |
| NC_000008.10:g.22005992A>G , CM000670.1:g.22005992A>G | GRCh37 |
| NC_000008.9:g.22061937A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.1328T>C MANE Select | NP_644807.1:p.Ile443Thr |
| ENST00000306317.7:c.1328T>C MANE Select | ENSP00000302297.2:p.Ile443Thr |
| NM_139278.2:c.1328T>C | NP_644807.1:p.Ile443Thr |
| NM_139278.3:c.1328T>C | NP_644807.1:p.Ile443Thr |
| ENST00000306317.6:c.1328T>C | ENSP00000302297.2:p.Ile443Thr |
| ENST00000424267.6:c.1256T>C | ENSP00000399121.2:p.Ile419Thr |
| ENST00000520124.5:n.2771T>C |