Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59845395G>A , CM000673.2:g.59845395G>A | GRCh38 |
| NC_000011.9:g.59612868G>A , CM000673.1:g.59612868G>A | GRCh37 |
| NC_000011.8:g.59369444G>A | NCBI36 |
| NG_008120.1:g.5107C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.59C>T MANE Select | NP_005133.2:p.Thr20Ile |
| ENST00000257248.3:c.59C>T MANE Select | ENSP00000257248.2:p.Thr20Ile |
| NM_005142.2:c.59C>T | NP_005133.2:p.Thr20Ile |
| ENST00000257248.2:c.59C>T | ENSP00000257248.2:p.Thr20Ile |
| ENST00000525058.5:c.59C>T | ENSP00000433196.1:p.Thr20Ile |
| ENST00000532070.1:n.105C>T | |
| XM_011544939.1:c.59C>T | XP_011543241.1:p.Thr20Ile |
| XM_011544939.3:c.59C>T | XP_011543241.1:p.Thr20Ile |