Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75784694C>A , CM000685.2:g.75784694C>A | GRCh38 |
| NC_000023.10:g.75004529C>A , CM000685.1:g.75004529C>A | GRCh37 |
| NC_000023.9:g.74921254C>A | NCBI36 |
| NG_021324.1:g.5551G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138703.5:c.358G>T MANE Select | NP_619648.1:p.Glu120Ter |
| ENST00000373359.4:c.358G>T MANE Select | ENSP00000362457.2:p.Glu120Ter |
| NM_138703.4:c.358G>T | NP_619648.1:p.Glu120Ter |
| ENST00000373359.3:c.358G>T | ENSP00000362457.2:p.Glu120Ter |
| XR_001755892.1:n.449-6598C>A | |
| XR_001755894.1:n.449-6988C>A |