Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028899G= , CM000666.2:g.52028899G= | GRCh38 |
| NC_000004.11:g.52895065G= , CM000666.1:g.52895065G= | GRCh37 |
| NC_000004.10:g.52589822G= | NCBI36 |
| NG_008891.1:g.14421C= , LRG_204:g.14421C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.452C= MANE Select | NP_000223.1:p.Thr151= |
| ENST00000381431.10:c.452C= MANE Select | ENSP00000370839.6:p.Thr151= |
| NM_000232.4:c.452C= , LRG_204t1:c.452C= | NP_000223.1:p.Thr151= |
| ENST00000381431.9:c.452C= | ENSP00000370839.5:p.Thr151= |
| ENST00000506357.5:c.535C= | |
| ENST00000514133.1:c.529C= | ENSP00000425818.1:n.529C= |
| XM_006714049.2:c.155C= | XP_006714112.1:p.Thr52= |
| XM_011534403.1:c.242C= | XP_011532705.1:p.Thr81= |
| XM_011534404.1:c.155C= | XP_011532706.1:p.Thr52= |