Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129933A>C , CM000667.2:g.179129933A>C | GRCh38 |
| NC_000005.9:g.178556934A>C , CM000667.1:g.178556934A>C | GRCh37 |
| NC_000005.8:g.178489540A>C | NCBI36 |
| NG_023212.2:g.220396T>G | |
| NG_023212.3:g.220396T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2456T>G | ENSP00000514008.1:p.Leu819Arg | |
| ENST00000251582.12:c.2456T>G MANE Select | ENSP00000251582.7:p.Leu819Arg | |
| ENST00000518335.3:c.2456T>G | ENSP00000489888.2:p.Leu819Arg | |
| ENST00000251582.11:c.2456T>G | ENSP00000251582.7:p.Leu819Arg | |
| NM_014244.4:c.2456T>G | NP_055059.2:p.Leu819Arg | |
| NM_014244.5:c.2456T>G MANE Select | NP_055059.2:p.Leu819Arg |