Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59831778T>C , CM000673.2:g.59831778T>C | GRCh38 |
| NC_000011.9:g.59599251T>C , CM000673.1:g.59599251T>C | GRCh37 |
| NC_000011.8:g.59355827T>C | NCBI36 |
| NG_008120.1:g.18724A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.1092A>G MANE Select | NP_005133.2:p.Thr364= |
| ENST00000257248.3:c.1092A>G MANE Select | ENSP00000257248.2:p.Thr364= |
| NM_005142.2:c.1092A>G | NP_005133.2:p.Thr364= |
| ENST00000257248.2:c.1092A>G | ENSP00000257248.2:p.Thr364= |
| ENST00000525058.5:c.*1059A>G | ENSP00000433196.1:n.*1059A>G |
| ENST00000533067.1:n.139A>G | |
| XM_011544939.1:c.1050A>G | XP_011543241.1:p.Thr350= |
| XM_011544939.3:c.1050A>G | XP_011543241.1:p.Thr350= |