Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32091713G= , CM000684.2:g.32091713G= | GRCh38 |
| NC_000022.10:g.32487700G= , CM000684.1:g.32487700G= | GRCh37 |
| NC_000022.9:g.30817700G= | NCBI36 |
| NG_017045.1:g.53682G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1231G= MANE Select | NP_000334.1:p.Ala411= |
| ENST00000266088.9:c.1231G= MANE Select | ENSP00000266088.4:p.Ala411= |
| NM_000343.3:c.1231G= | NP_000334.1:p.Ala411= |
| NM_001256314.1:c.850G= | NP_001243243.1:p.Ala284= |
| NM_001256314.2:c.850G= | NP_001243243.1:p.Ala284= |
| ENST00000266088.8:c.1231G= | ENSP00000266088.4:p.Ala411= |
| ENST00000477969.1:n.397G= | |
| ENST00000543737.2:c.850G= | ENSP00000444898.1:p.Ala284= |
| XM_011530331.1:c.1231G= | XP_011528633.1:p.Ala411= |
| XR_938173.1:n.591+15125C= | |
| XR_938174.1:n.487-22910C= |