Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100239918C>T , CM000676.2:g.100239918C>T | GRCh38 |
| NC_000014.8:g.100706255C>T , CM000676.1:g.100706255C>T | GRCh37 |
| NC_000014.7:g.99776008C>T | NCBI36 |
| NG_046908.1:g.6154C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.674C>T MANE Select | NP_003394.1:p.Ser225Phe |
| ENST00000262238.10:c.674C>T MANE Select | ENSP00000262238.4:p.Ser225Phe |
| NM_003403.4:c.674C>T | NP_003394.1:p.Ser225Phe |
| ENST00000262238.8:c.674C>T | ENSP00000262238.4:p.Ser225Phe |
| ENST00000553625.5:c.165C>T | |
| ENST00000554804.1:c.160C>T | |
| ENST00000651219.1:c.32C>T | ENSP00000498329.1:p.Ser11Phe |