Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23383293G>A , CM000676.2:g.23383293G>A | GRCh38 |
| NC_000014.8:g.23852502G>A , CM000676.1:g.23852502G>A | GRCh37 |
| NC_000014.7:g.22922342G>A | NCBI36 |
| NG_023444.1:g.29985C>T , LRG_389:g.29985C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.5593C>T MANE Select | NP_002462.2:p.Arg1865Trp |
| ENST00000405093.9:c.5593C>T MANE Select | ENSP00000386041.3:p.Arg1865Trp |
| NM_002471.3:c.5593C>T , LRG_389t1:c.5593C>T | NP_002462.2:p.Arg1865Trp |
| ENST00000356287.3:c.5593C>T | ENSP00000348634.3:p.Arg1865Trp |
| ENST00000405093.7:c.5593C>T | ENSP00000386041.3:p.Arg1865Trp |
| ENST00000651452.1:n.820C>T |