Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985919T>G , CM000678.2:g.1985919T>G | GRCh38 |
| NC_000016.9:g.2035920T>G , CM000678.1:g.2035920T>G | GRCh37 |
| NC_000016.8:g.1975921T>G | NCBI36 |
| NG_016288.1:g.6771T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.284T>G | ENSP00000455885.1:p.Leu95Arg | |
| ENST00000248114.7:c.509T>G MANE Select | ENSP00000248114.6:p.Leu170Arg | |
| ENST00000248114.6:c.509T>G | ENSP00000248114.6:p.Leu170Arg | |
| ENST00000565658.1:n.666T>G | ||
| ENST00000567719.1:c.284T>G | ENSP00000455885.1:p.Leu95Arg | |
| ENST00000569451.1:c.312T>G | ENSP00000456432.1:p.Ala104= | |
| NM_005262.2:c.509T>G | NP_005253.3:p.Leu170Arg | |
| NM_005262.3:c.509T>G MANE Select | NP_005253.3:p.Leu170Arg |