Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82043650G>A , CM000677.2:g.82043650G>A | GRCh38 |
| NC_000015.9:g.82335991G>A , CM000677.1:g.82335991G>A | GRCh37 |
| NC_000015.8:g.80123046G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329713.5:c.1220C>T MANE Select | ENSP00000329918.4:p.Ser407Phe | |
| ENST00000329713.4:c.1220C>T | ENSP00000329918.4:p.Ser407Phe | |
| ENST00000558133.1:c.*1579C>T | ENSP00000456938.1:n.*1579C>T | |
| NM_032246.4:c.1220C>T | NP_115622.2:p.Ser407Phe | |
| NM_032246.5:c.1220C>T | NP_115622.2:p.Ser407Phe | |
| NM_032246.6:c.1220C>T MANE Select | NP_115622.2:p.Ser407Phe |