Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588253G>T , CM000672.2:g.113588253G>T | GRCh38 |
| NC_000010.10:g.115348012G>T , CM000672.1:g.115348012G>T | GRCh37 |
| NC_000010.9:g.115338002G>T | NCBI36 |
| NG_008956.1:g.40235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1567G>T MANE Select | ENSP00000277903.4:p.Val523Phe | |
| ENST00000351270.3:c.1567G>T | ENSP00000277903.4:p.Val523Phe | |
| ENST00000542051.5:c.1489G>T | ENSP00000443283.1:p.Val497Phe | |
| NM_001177660.1:c.1489G>T | NP_001171131.1:p.Val497Phe | |
| NM_004132.3:c.1567G>T | NP_004123.1:p.Val523Phe | |
| NM_001177660.2:c.1489G>T | NP_001171131.1:p.Val497Phe | |
| NM_004132.4:c.1567G>T | NP_004123.1:p.Val523Phe | |
| NM_004132.5:c.1567G>T MANE Select | NP_004123.1:p.Val523Phe | |
| NM_001177660.3:c.1489G>T | NP_001171131.1:p.Val497Phe |