Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59835928A>G , CM000673.2:g.59835928A>G | GRCh38 |
| NC_000011.9:g.59603401A>G , CM000673.1:g.59603401A>G | GRCh37 |
| NC_000011.8:g.59359977A>G | NCBI36 |
| NG_008120.1:g.14574T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.953T>C MANE Select | ENSP00000257248.2:p.Ile318Thr | |
| ENST00000257248.2:c.953T>C | ENSP00000257248.2:p.Ile318Thr | |
| ENST00000525058.5:c.*920T>C | ENSP00000433196.1:n.*920T>C | |
| ENST00000533847.1:n.605T>C | ||
| NM_005142.2:c.953T>C | NP_005133.2:p.Ile318Thr | |
| XM_011544939.1:c.911T>C | XP_011543241.1:p.Ile304Thr | |
| XM_011544939.3:c.911T>C | XP_011543241.1:p.Ile304Thr | |
| NM_005142.3:c.953T>C MANE Select | NP_005133.2:p.Ile318Thr |