Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962980T>G , CM000666.2:g.42962980T>G | GRCh38 |
| NC_000004.11:g.42964997T>G , CM000666.1:g.42964997T>G | GRCh37 |
| NC_000004.10:g.42659754T>G | NCBI36 |
| NG_027718.1:g.74715T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.473T>G MANE Select | ENSP00000382670.2:p.Leu158Arg | |
| ENST00000399770.2:c.473T>G | ENSP00000382670.2:p.Leu158Arg | |
| NM_001080476.2:c.473T>G | NP_001073945.1:p.Leu158Arg | |
| XM_011513691.1:c.110T>G | XP_011511993.1:p.Leu37Arg | |
| NM_001080476.3:c.473T>G MANE Select | NP_001073945.1:p.Leu158Arg |