Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280207A>C , CM000672.2:g.80280207A>C | GRCh38 |
| NC_000010.10:g.82039963A>C , CM000672.1:g.82039963A>C | GRCh37 |
| NC_000010.9:g.82029943A>C | NCBI36 |
| NG_008083.1:g.14472T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.515T>G MANE Select | ENSP00000361287.3:p.Leu172Arg | |
| ENST00000372213.7:c.515T>G | ENSP00000361287.3:p.Leu172Arg | |
| ENST00000455001.1:c.326T>G | ENSP00000414961.1:p.Leu109Arg | |
| NM_000429.2:c.515T>G | NP_000420.1:p.Leu172Arg | |
| XM_005269842.3:c.515T>G | XP_005269899.1:p.Leu172Arg | |
| XM_005269843.3:c.392T>G | XP_005269900.1:p.Leu131Arg | |
| NM_000429.3:c.515T>G MANE Select | NP_000420.1:p.Leu172Arg |