Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119336029C>T , CM000673.2:g.119336029C>T | GRCh38 |
| NC_000011.9:g.119206739C>T , CM000673.1:g.119206739C>T | GRCh37 |
| NC_000011.8:g.118711949C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311413.5:c.907C>T MANE Select | ENSP00000312439.4:p.Arg303Trp | |
| ENST00000311413.4:c.907C>T | ENSP00000312439.4:p.Arg303Trp | |
| NM_032015.4:c.907C>T | NP_114404.1:p.Arg303Trp | |
| NM_032015.5:c.907C>T MANE Select | NP_114404.1:p.Arg303Trp |