Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143316259G>A , CM000669.2:g.143316259G>A | GRCh38 |
| NC_000007.13:g.143013352G>A , CM000669.1:g.143013352G>A | GRCh37 |
| NC_000007.12:g.142723474G>A | NCBI36 |
| NG_009815.1:g.5134G>A | |
| NG_009815.2:g.5134G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.3:c.47G>A MANE Select | NP_000074.3:p.Trp16Ter |
| ENST00000343257.7:c.47G>A MANE Select | ENSP00000339867.2:p.Trp16Ter |
| NM_000083.2:c.47G>A | NP_000074.2:p.Trp16Ter |
| NR_046453.1:n.134G>A | |
| NR_046453.2:n.149G>A | |
| ENST00000343257.6:c.47G>A | ENSP00000339867.2:p.Trp16Ter |
| ENST00000650516.1:c.47G>A | ENSP00000498052.1:p.Trp16Ter |
| ENST00000650516.2:c.47G>A | ENSP00000498052.2:p.Trp16Ter |
| XM_011515781.1:c.47G>A | XP_011514083.1:p.Trp16Ter |