Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009042G= , CM000676.2:g.75009042G= | GRCh38 |
| NC_000014.8:g.75475745G= , CM000676.1:g.75475745G= | GRCh37 |
| NC_000014.7:g.74545498G= | NCBI36 |
| NG_013333.1:g.11134G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014239.4:c.910G= MANE Select | NP_055054.1:p.Glu304= |
| ENST00000266126.10:c.910G= MANE Select | ENSP00000266126.5:p.Glu304= |
| NM_014239.3:c.910G= | NP_055054.1:p.Glu304= |
| ENST00000266126.9:c.910G= | ENSP00000266126.5:p.Glu304= |
| ENST00000556668.1:n.490G= |