Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1990166C>T , CM000678.2:g.1990166C>T | GRCh38 |
| NC_000016.9:g.2040167C>T , CM000678.1:g.2040167C>T | GRCh37 |
| NC_000016.8:g.1980168C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004209.6:c.64C>T MANE Select | NP_004200.2:p.Arg22Trp |
| ENST00000248121.7:c.64C>T MANE Select | ENSP00000248121.2:p.Arg22Trp |
| NM_004209.5:c.64C>T | NP_004200.2:p.Arg22Trp |
| ENST00000248121.6:c.64C>T | ENSP00000248121.2:p.Arg22Trp |
| ENST00000563869.1:c.31+335C>T | ENSP00000455344.1:n.31+335C>T |
| ENST00000568896.1:c.10C>T | ENSP00000454756.1:p.Arg4Trp |
| ENST00000618464.1:c.64C>T | ENSP00000481324.1:p.Arg22Trp |