Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133532171G>T , CM000672.2:g.133532171G>T | GRCh38 |
| NC_000010.10:g.135345675G>T , CM000672.1:g.135345675G>T | GRCh37 |
| NC_000010.9:g.135195665G>T | NCBI36 |
| NG_008383.1:g.9809G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252945.8:c.535G>T MANE Select | ENSP00000252945.3:p.Val179Phe | |
| ENST00000252945.7:c.535G>T | ENSP00000252945.3:p.Val179Phe | |
| ENST00000368520.1:n.596G>T | ||
| ENST00000418356.1:c.124G>T | ENSP00000397299.1:p.Val42Phe | |
| ENST00000421586.5:c.274G>T | ENSP00000412754.1:p.Val92Phe | |
| ENST00000463117.6:c.535G>T | ENSP00000440689.1:p.Val179Phe | |
| ENST00000477500.5:n.448+437G>T | ||
| ENST00000541080.5:c.226+437G>T | ||
| NM_000773.3:c.535G>T | NP_000764.1:p.Val179Phe | |
| NM_000773.4:c.535G>T MANE Select | NP_000764.1:p.Val179Phe |