Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84431615G>T , CM000664.2:g.84431615G>T | GRCh38 |
| NC_000002.11:g.84658739G>T , CM000664.1:g.84658739G>T | GRCh37 |
| NC_000002.10:g.84512250G>T | NCBI36 |
| NG_016755.1:g.32848C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.718C>A MANE Select | ENSP00000377446.2:p.Leu240Ile | |
| ENST00000651342.1:c.*158C>A | ENSP00000498471.1:n.*158C>A | |
| ENST00000393868.6:c.718C>A | ENSP00000377446.2:p.Leu240Ile | |
| ENST00000487809.1:n.465C>A | ||
| ENST00000491123.5:n.564C>A | ||
| NM_003849.3:c.718C>A | NP_003840.2:p.Leu240Ile | |
| NM_003849.4:c.718C>A MANE Select | NP_003840.2:p.Leu240Ile |