Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144382C= , CM000670.2:g.38144382C= | GRCh38 |
| NC_000008.10:g.38001900C= , CM000670.1:g.38001900C= | GRCh37 |
| NC_000008.9:g.38121057C= | NCBI36 |
| NG_011827.1:g.11701G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.749G= MANE Select | NP_000340.2:p.Trp250= |
| ENST00000276449.9:c.749G= MANE Select | ENSP00000276449.3:p.Trp250= |
| NM_000349.2:c.749G= | NP_000340.2:p.Trp250= |
| ENST00000276449.8:c.749G= | ENSP00000276449.3:p.Trp250= |
| ENST00000520114.1:n.2718G= | |
| ENST00000522050.1:c.591G= | |
| XM_006716392.1:c.655G= | XP_006716455.1:p.Gly219= |