Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370608G= , CM000683.2:g.34370608G= | GRCh38 |
| NC_000021.8:g.35742907G= , CM000683.1:g.35742907G= | GRCh37 |
| NC_000021.7:g.34664777G= | NCBI36 |
| NG_008804.1:g.11585G= , LRG_291:g.11585G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.130G= MANE Select | ENSP00000290310.2:p.Glu44= | |
| ENST00000290310.3:c.130G= | ENSP00000290310.2:p.Glu44= | |
| NM_172201.1:c.130G= , LRG_291t1:c.130G= | NP_751951.1:p.Glu44= | |
| XR_937683.1:n.713C= | ||
| XR_937684.1:n.713C= | ||
| XR_001755012.2:n.834C= | ||
| XR_001755013.2:n.713C= | ||
| XR_937683.2:n.713C= | ||
| NM_172201.2:c.130G= MANE Select | NP_751951.1:p.Glu44= |