Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255876G>T , CM000669.2:g.255876G>T | GRCh38 |
| NC_000007.13:g.295842G>T , CM000669.1:g.295842G>T | GRCh37 |
| NG_033970.1:g.65512G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1100G>T MANE Select | ENSP00000322323.5:p.Cys367Phe | |
| ENST00000313766.5:c.1100G>T | ENSP00000322323.5:p.Cys367Phe | |
| ENST00000515795.1:n.757G>T | ||
| NM_020223.3:c.1100G>T | NP_064608.2:p.Cys367Phe | |
| XR_242097.3:n.1247G>T | ||
| XM_017012450.1:c.1361G>T | XP_016867939.1:p.Cys454Phe | |
| XM_017012451.1:c.1358G>T | XP_016867940.1:p.Cys453Phe | |
| XM_017012455.2:c.398G>T | XP_016867944.1:p.Cys133Phe | |
| NM_020223.4:c.1100G>T MANE Select | NP_064608.2:p.Cys367Phe |