Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954856A>C , CM000673.2:g.86954856A>C | GRCh38 |
| NC_000011.9:g.86665898A>C , CM000673.1:g.86665898A>C | GRCh37 |
| NC_000011.8:g.86343546A>C | NCBI36 |
| NG_011752.1:g.5536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.230T>G MANE Select | ENSP00000434034.1:p.Leu77Arg | |
| ENST00000531380.1:c.230T>G | ENSP00000434034.1:p.Leu77Arg | |
| NM_012193.3:c.230T>G | NP_036325.2:p.Leu77Arg | |
| NM_012193.4:c.230T>G MANE Select | NP_036325.2:p.Leu77Arg |