Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101235201G>A , CM000677.2:g.101235201G>A | GRCh38 |
| NC_000015.9:g.101775406G>A , CM000677.1:g.101775406G>A | GRCh37 |
| NC_000015.8:g.99592929G>A | NCBI36 |
| NG_031908.1:g.21732C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.697C>T MANE Select | NP_055733.2:p.Arg233Trp |
| ENST00000254190.4:c.697C>T MANE Select | ENSP00000254190.3:p.Arg233Trp |
| NM_014918.4:c.697C>T | NP_055733.2:p.Arg233Trp |
| ENST00000254190.3:c.697C>T | ENSP00000254190.3:p.Arg233Trp |
| XM_011521364.1:c.697C>T | XP_011519666.1:p.Arg233Trp |
| XM_011521364.2:c.697C>T | XP_011519666.1:p.Arg233Trp |
| XM_011521365.1:c.-1+54C>T | XP_011519667.1:n.-1+54C>T |