Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988874T>G , CM000672.2:g.94988874T>G | GRCh38 |
| NC_000010.10:g.96748631T>G , CM000672.1:g.96748631T>G | GRCh37 |
| NC_000010.9:g.96738621T>G | NCBI36 |
| NG_008385.1:g.55217T>G | |
| NG_008385.2:g.55717T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1319T>G MANE Select | ENSP00000260682.6:p.Leu440Arg | |
| ENST00000643112.1:c.*328T>G | ENSP00000496202.1:n.*328T>G | |
| ENST00000260682.6:c.1319T>G | ENSP00000260682.6:p.Leu440Arg | |
| NM_000771.3:c.1319T>G | NP_000762.2:p.Leu440Arg | |
| NM_000771.4:c.1319T>G MANE Select | NP_000762.2:p.Leu440Arg |