Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62647229G>A , CM000673.2:g.62647229G>A | GRCh38 |
| NC_000011.9:g.62414701G>A , CM000673.1:g.62414701G>A | GRCh37 |
| NC_000011.8:g.62171277G>A | NCBI36 |
| NG_053018.1:g.4498C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030628.2:c.2851C>T MANE Select | NP_085131.1:p.Arg951Trp |
| ENST00000330574.2:c.2851C>T MANE Select | ENSP00000327889.2:p.Arg951Trp |
| NM_030628.1:c.2851C>T | NP_085131.1:p.Arg951Trp |