Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445334T>G , CM000673.2:g.2445334T>G | GRCh38 |
| NC_000011.9:g.2466564T>G , CM000673.1:g.2466564T>G | GRCh37 |
| NC_000011.8:g.2423140T>G | NCBI36 |
| NG_008935.1:g.5344T>G , LRG_287:g.5344T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-49T>G | ENSP00000434560.2:n.24-49T>G | |
| ENST00000646564.2:c.236T>G | ENSP00000495806.2:p.Leu79Arg | |
| ENST00000155840.12:c.236T>G MANE Select | ENSP00000155840.2:p.Leu79Arg | |
| ENST00000155840.9:c.236T>G | ENSP00000155840.2:p.Leu79Arg | |
| ENST00000345015.4:n.13T>G | ||
| ENST00000496887.6:c.24-49T>G | ENSP00000434560.1:n.24-49T>G | |
| NM_000218.2:c.236T>G , LRG_287t1:c.236T>G | NP_000209.2:p.Leu79Arg | |
| NM_000218.3:c.236T>G MANE Select | NP_000209.2:p.Leu79Arg |