Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598655G>T , CM000680.2:g.31598655G>T | GRCh38 |
| NC_000018.9:g.29178618G>T , CM000680.1:g.29178618G>T | GRCh37 |
| NC_000018.8:g.27432616G>T | NCBI36 |
| NG_009490.1:g.11889G>T , LRG_416:g.11889G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.424G>T MANE Select | ENSP00000237014.4:p.Val142Phe | |
| ENST00000610404.5:c.328G>T | ENSP00000477599.2:p.Val110Phe | |
| ENST00000649620.1:c.424G>T | ENSP00000497927.1:p.Val142Phe | |
| ENST00000237014.7:c.424G>T | ENSP00000237014.3:p.Val142Phe | |
| ENST00000610404.4:c.538G>T | ENSP00000477599.1:p.Val180Phe | |
| ENST00000613781.1:c.400G>T | ENSP00000479174.1:p.Val134Phe | |
| NM_000371.3:c.424G>T , LRG_416t1:c.424G>T | NP_000362.1:p.Val142Phe | |
| NM_000371.4:c.424G>T MANE Select | NP_000362.1:p.Val142Phe |