Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100276622G>T , CM000676.2:g.100276622G>T | GRCh38 |
| NC_000014.8:g.100742959G>T , CM000676.1:g.100742959G>T | GRCh37 |
| NC_000014.7:g.99812712G>T | NCBI36 |
| NG_046908.1:g.42858G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1036G>T MANE Select | NP_003394.1:p.Val346Phe |
| ENST00000262238.10:c.1036G>T MANE Select | ENSP00000262238.4:p.Val346Phe |
| NM_003403.4:c.1036G>T | NP_003394.1:p.Val346Phe |
| ENST00000262238.8:c.1036G>T | ENSP00000262238.4:p.Val346Phe |
| ENST00000554579.1:n.424G>T | |
| ENST00000554804.1:c.390-796G>T | |
| ENST00000623799.1:n.894G>T | |
| ENST00000651219.1:c.526G>T | ENSP00000498329.1:n.526G>T |
| ENST00000704024.1:n.1085G>T | |
| ENST00000704485.1:c.274G>T | ENSP00000515913.1:p.Val92Phe |