Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154747T>G , CM000668.2:g.3154747T>G | GRCh38 |
| NC_000006.11:g.3154981T>G , CM000668.1:g.3154981T>G | GRCh37 |
| NC_000006.10:g.3099980T>G | NCBI36 |
| NG_042223.1:g.7803A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.454A>C MANE Select | ENSP00000369703.2:p.Ile152Leu | |
| ENST00000679400.1:n.510A>C | ||
| ENST00000679907.1:n.842A>C | ||
| ENST00000680036.1:n.1236A>C | ||
| ENST00000680967.1:n.1544A>C | ||
| ENST00000333628.3:c.454A>C | ENSP00000369703.2:p.Ile152Leu | |
| ENST00000489942.1:n.649A>C | ||
| NM_001069.2:c.454A>C | NP_001060.1:p.Ile152Leu | |
| NM_001310315.1:c.199A>C | NP_001297244.1:p.Ile67Leu | |
| NM_001069.3:c.454A>C MANE Select | NP_001060.1:p.Ile152Leu | |
| NM_001310315.2:c.199A>C | NP_001297244.1:p.Ile67Leu |