Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299372G>A , CM000673.2:g.299372G>A | GRCh38 |
| NC_000011.9:g.299372G>A , CM000673.1:g.299372G>A | GRCh37 |
| NC_000011.8:g.289372G>A | NCBI36 |
| NG_032892.1:g.5155C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001025295.3:c.119C>T MANE Select | NP_001020466.1:p.Ser40Leu |
| ENST00000382614.2:c.119C>T MANE Select | ENSP00000372059.2:p.Ser40Leu |
| NM_001025295.2:c.119C>T | NP_001020466.1:p.Ser40Leu |