Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20652643G>A , CM000663.2:g.20652643G>A | GRCh38 |
| NC_000001.10:g.20979136G>A , CM000663.1:g.20979136G>A | GRCh37 |
| NC_000001.9:g.20851723G>A | NCBI36 |
| NG_008164.1:g.24189G>A | |
| NG_032064.1:g.13902C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005216.5:c.1148C>T MANE Select | NP_005207.3:p.Thr383Ile |
| ENST00000602624.7:c.1148C>T MANE Select | ENSP00000473655.2:p.Thr383Ile |
| NM_005216.4:c.1199C>T | NP_005207.2:p.Thr400Ile |
| ENST00000375048.7:c.1199C>T | ENSP00000364188.3:p.Thr400Ile |
| ENST00000415136.6:c.1199C>T | ENSP00000399457.3:p.Thr400Ile |
| ENST00000475210.1:n.319C>T | |
| ENST00000602624.6:c.1148C>T | ENSP00000473655.1:p.Thr383Ile |