Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988898T>G , CM000672.2:g.94988898T>G | GRCh38 |
| NC_000010.10:g.96748655T>G , CM000672.1:g.96748655T>G | GRCh37 |
| NC_000010.9:g.96738645T>G | NCBI36 |
| NG_008385.1:g.55241T>G | |
| NG_008385.2:g.55741T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1343T>G MANE Select | ENSP00000260682.6:p.Phe448Cys | |
| ENST00000643112.1:c.*352T>G | ENSP00000496202.1:n.*352T>G | |
| ENST00000260682.6:c.1343T>G | ENSP00000260682.6:p.Phe448Cys | |
| NM_000771.3:c.1343T>G | NP_000762.2:p.Phe448Cys | |
| NM_000771.4:c.1343T>G MANE Select | NP_000762.2:p.Phe448Cys |