Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35618928C>T , CM000673.2:g.35618928C>T | GRCh38 |
| NC_000011.9:g.35640476C>T , CM000673.1:g.35640476C>T | GRCh37 |
| NC_000011.8:g.35597052C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014344.4:c.292C>T MANE Select | NP_055159.2:p.Arg98Trp |
| ENST00000317811.6:c.292C>T MANE Select | ENSP00000400223.1:p.Arg98Trp |
| NM_014344.3:c.292C>T | NP_055159.2:p.Arg98Trp |
| ENST00000317811.5:c.292C>T | ENSP00000400223.1:p.Arg98Trp |