Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312711T>G , CM000673.2:g.118312711T>G | GRCh38 |
| NC_000011.9:g.118183426T>G , CM000673.1:g.118183426T>G | GRCh37 |
| NC_000011.8:g.117688636T>G | NCBI36 |
| NG_007383.1:g.13132T>G , LRG_38:g.13132T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.197T>G MANE Select | ENSP00000354566.4:p.Ile66Arg | |
| ENST00000361763.8:c.197T>G | ENSP00000354566.4:p.Ile66Arg | |
| ENST00000526146.5:n.743T>G | ||
| ENST00000528435.5:n.750T>G | ||
| ENST00000528600.1:c.179T>G | ENSP00000433975.1:p.Ile60Arg | |
| ENST00000529713.5:n.303T>G | ||
| ENST00000531913.1:n.568T>G | ||
| NM_000733.3:c.197T>G , LRG_38t1:c.197T>G | NP_000724.1:p.Ile66Arg | |
| NM_000733.4:c.197T>G MANE Select | NP_000724.1:p.Ile66Arg |