Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910150A>C , CM000673.2:g.45910150A>C | GRCh38 |
| NC_000011.9:g.45931701A>C , CM000673.1:g.45931701A>C | GRCh37 |
| NC_000011.8:g.45888277A>C | NCBI36 |
| NG_008460.1:g.12974T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*104T>G MANE Select | ENSP00000368024.5:n.*104T>G | |
| ENST00000241041.7:c.980T>G | ENSP00000241041.3:p.Leu327Arg | |
| NM_004813.2:c.*104T>G | NP_004804.1:n.*104T>G | |
| NM_057174.2:c.980T>G | NP_476515.1:p.Leu327Arg | |
| NM_004813.3:c.*104T>G | NP_004804.1:n.*104T>G | |
| NM_004813.4:c.*104T>G MANE Select | NP_004804.2:n.*104T>G | |
| NM_057174.3:c.980T>G | NP_476515.2:p.Leu327Arg |