Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48985948G>A , CM000681.2:g.48985948G>A | GRCh38 |
| NC_000019.9:g.49489205G>A , CM000681.1:g.49489205G>A | GRCh37 |
| NC_000019.8:g.54181017G>A | NCBI36 |
| NG_012923.1:g.12406C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002103.5:c.580C>T MANE Select | NP_002094.2:p.Arg194Trp |
| ENST00000323798.8:c.580C>T MANE Select | ENSP00000317904.3:p.Arg194Trp |
| NM_001161587.1:c.388C>T | NP_001155059.1:p.Arg130Trp |
| NM_001161587.2:c.388C>T | NP_001155059.1:p.Arg130Trp |
| NM_002103.4:c.580C>T | NP_002094.2:p.Arg194Trp |
| NR_027763.1:n.639C>T | |
| NR_027763.2:n.595C>T | |
| ENST00000263276.6:c.388C>T | ENSP00000263276.6:p.Arg130Trp |
| ENST00000323798.7:c.580C>T | ENSP00000317904.3:p.Arg194Trp |