Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028003C= , CM000666.2:g.52028003C= | GRCh38 |
| NC_000004.11:g.52894169C= , CM000666.1:g.52894169C= | GRCh37 |
| NC_000004.10:g.52588926C= | NCBI36 |
| NG_008891.1:g.15317G= , LRG_204:g.15317G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.718G= MANE Select | ENSP00000370839.6:p.Glu240= | |
| ENST00000381431.9:c.718G= | ENSP00000370839.5:p.Glu240= | |
| NM_000232.4:c.718G= , LRG_204t1:c.718G= | NP_000223.1:p.Glu240= | |
| XM_006714049.2:c.421G= | XP_006714112.1:p.Glu141= | |
| XM_011534403.1:c.508G= | XP_011532705.1:p.Glu170= | |
| XM_011534404.1:c.421G= | XP_011532706.1:p.Glu141= | |
| NM_000232.5:c.718G= MANE Select | NP_000223.1:p.Glu240= |