Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420536G>A , CM000666.2:g.99420536G>A | GRCh38 |
| NC_000004.11:g.100341693G>A , CM000666.1:g.100341693G>A | GRCh37 |
| NC_000004.10:g.100560716G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.822C>T MANE Select | ENSP00000414254.2:p.Thr274= | |
| ENST00000209665.8:c.858C>T | ENSP00000209665.4:p.Thr286= | |
| ENST00000437033.6:c.822C>T | ENSP00000414254.2:p.Thr274= | |
| ENST00000476959.5:c.882C>T | ENSP00000420269.1:p.Thr294= | |
| ENST00000482593.5:c.651C>T | ENSP00000420613.1:p.Thr217= | |
| NM_000673.4:c.858C>T | NP_000664.2:p.Thr286= | |
| NM_001166504.1:c.882C>T | NP_001159976.1:p.Thr294= | |
| NM_000673.7:c.822C>T MANE Select | NP_000664.3:p.Thr274= | |
| NM_001166504.2:c.882C>T | NP_001159976.1:p.Thr294= |