Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703264C>A , CM000677.2:g.66703264C>A | GRCh38 |
| NC_000015.9:g.66995602C>A , CM000677.1:g.66995602C>A | GRCh37 |
| NC_000015.8:g.64782656C>A | NCBI36 |
| NG_012244.1:g.5929C>A | |
| NG_012244.2:g.5929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.6C>A MANE Select | ENSP00000288840.5:p.Phe2Leu | |
| ENST00000288840.9:c.6C>A | ENSP00000288840.5:p.Phe2Leu | |
| ENST00000557916.5:c.6C>A | ENSP00000452955.1:p.Phe2Leu | |
| ENST00000612349.1:n.188C>A | ||
| NM_005585.4:c.6C>A | NP_005576.3:p.Phe2Leu | |
| NR_027654.1:n.929C>A | ||
| XR_931825.1:n.1165C>A | ||
| XR_931826.1:n.1165C>A | ||
| XR_931827.1:n.1165C>A | ||
| XR_931827.2:n.1155C>A | ||
| NM_005585.5:c.6C>A MANE Select | NP_005576.3:p.Phe2Leu | |
| NR_027654.2:n.1029C>A |