Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143320714G>T , CM000669.2:g.143320714G>T | GRCh38 |
| NC_000007.13:g.143017807G>T , CM000669.1:g.143017807G>T | GRCh37 |
| NC_000007.12:g.142727929G>T | NCBI36 |
| NG_009815.2:g.9589G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.3:c.352G>T MANE Select | NP_000074.3:p.Gly118Trp |
| ENST00000343257.7:c.352G>T MANE Select | ENSP00000339867.2:p.Gly118Trp |
| NR_046453.2:n.454G>T | |
| ENST00000343257.6:c.352G>T | ENSP00000339867.2:p.Gly118Trp |
| ENST00000432192.6:c.120G>T | |
| ENST00000650516.1:c.352G>T | ENSP00000498052.1:p.Gly118Trp |
| ENST00000650516.2:c.352G>T | ENSP00000498052.2:p.Gly118Trp |
| XM_011515781.1:c.352G>T | XP_011514083.1:p.Gly118Trp |
| XM_017011739.1:c.59G>T | XP_016867228.1:p.Arg20Leu |
| XM_017011740.1:c.59G>T | XP_016867229.1:p.Arg20Leu |