Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433599T= , CM000676.2:g.23433599T= | GRCh38 |
| NC_000014.8:g.23902808T= , CM000676.1:g.23902808T= | GRCh37 |
| NC_000014.7:g.22972648T= | NCBI36 |
| NG_007884.1:g.7063A= , LRG_384:g.7063A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.134A= MANE Select | ENSP00000347507.3:p.Glu45= | |
| ENST00000355349.3:c.134A= | ENSP00000347507.3:p.Glu45= | |
| NM_000257.3:c.134A= | NP_000248.2:p.Glu45= | |
| XR_245686.3:n.240A= | ||
| XM_017021340.1:c.134A= | XP_016876829.1:p.Glu45= | |
| NM_000257.4:c.134A= MANE Select | NP_000248.2:p.Glu45= |