Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154785A>C , CM000668.2:g.3154785A>C | GRCh38 |
| NC_000006.11:g.3155019A>C , CM000668.1:g.3155019A>C | GRCh37 |
| NC_000006.10:g.3100018A>C | NCBI36 |
| NG_042223.1:g.7765T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.416T>G MANE Select | ENSP00000369703.2:p.Leu139Arg | |
| ENST00000679400.1:n.472T>G | ||
| ENST00000679907.1:n.804T>G | ||
| ENST00000680036.1:n.1198T>G | ||
| ENST00000680967.1:n.1506T>G | ||
| ENST00000333628.3:c.416T>G | ENSP00000369703.2:p.Leu139Arg | |
| ENST00000489942.1:n.611T>G | ||
| NM_001069.2:c.416T>G | NP_001060.1:p.Leu139Arg | |
| NM_001310315.1:c.161T>G | NP_001297244.1:p.Leu54Arg | |
| NM_001069.3:c.416T>G MANE Select | NP_001060.1:p.Leu139Arg | |
| NM_001310315.2:c.161T>G | NP_001297244.1:p.Leu54Arg |