Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100276643T>C , CM000676.2:g.100276643T>C | GRCh38 |
| NC_000014.8:g.100742980T>C , CM000676.1:g.100742980T>C | GRCh37 |
| NC_000014.7:g.99812733T>C | NCBI36 |
| NG_046908.1:g.42879T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1057T>C MANE Select | NP_003394.1:p.Phe353Leu |
| ENST00000262238.10:c.1057T>C MANE Select | ENSP00000262238.4:p.Phe353Leu |
| NM_003403.4:c.1057T>C | NP_003394.1:p.Phe353Leu |
| ENST00000262238.8:c.1057T>C | ENSP00000262238.4:p.Phe353Leu |
| ENST00000554579.1:n.445T>C | |
| ENST00000554804.1:c.390-775T>C | |
| ENST00000623799.1:n.915T>C | |
| ENST00000651219.1:c.547T>C | ENSP00000498329.1:n.547T>C |
| ENST00000704024.1:n.1106T>C | |
| ENST00000704485.1:c.295T>C | ENSP00000515913.1:p.Phe99Leu |