Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75784694C= , CM000685.2:g.75784694C= | GRCh38 |
| NC_000023.10:g.75004529C= , CM000685.1:g.75004529C= | GRCh37 |
| NC_000023.9:g.74921254C= | NCBI36 |
| NG_021324.1:g.5551G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373359.4:c.358G= MANE Select | ENSP00000362457.2:p.Glu120= | |
| ENST00000373359.3:c.358G= | ENSP00000362457.2:p.Glu120= | |
| NM_138703.4:c.358G= | NP_619648.1:p.Glu120= | |
| XR_001755892.1:n.449-6598C= | ||
| XR_001755894.1:n.449-6988C= | ||
| NM_138703.5:c.358G= MANE Select | NP_619648.1:p.Glu120= |