Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911161G>A , CM000674.2:g.110911161G>A | GRCh38 |
| NC_000012.11:g.111348965G>A , CM000674.1:g.111348965G>A | GRCh37 |
| NC_000012.10:g.109833348G>A | NCBI36 |
| NG_007554.1:g.14417C>T , LRG_393:g.14417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.417C>T MANE Select | ENSP00000228841.8:p.Phe139= | |
| ENST00000663220.1:c.360C>T | ENSP00000499568.1:p.Phe120= | |
| ENST00000228841.12:c.417C>T | ENSP00000228841.7:p.Phe139= | |
| ENST00000548438.1:c.375C>T | ENSP00000447154.1:p.Phe125= | |
| NM_000432.3:c.417C>T , LRG_393t1:c.417C>T | NP_000423.2:p.Phe139= | |
| NM_000432.4:c.417C>T MANE Select | NP_000423.2:p.Phe139= |