Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919846C>A , CM000678.2:g.89919846C>A | GRCh38 |
| NC_000016.9:g.89986254C>A , CM000678.1:g.89986254C>A | GRCh37 |
| NC_000016.8:g.88513755C>A | NCBI36 |
| NG_012026.1:g.6968C>A | |
| NG_027810.1:g.2838C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002386.4:c.588C>A MANE Select | NP_002377.4:p.Phe196Leu |
| ENST00000555147.2:c.588C>A MANE Select | ENSP00000451605.1:p.Phe196Leu |
| NM_002386.3:c.588C>A | NP_002377.4:p.Phe196Leu |
| ENST00000555147.1:c.588C>A | ENSP00000451605.1:p.Phe196Leu |
| ENST00000555427.1:c.588C>A | ENSP00000451760.1:p.Phe196Leu |
| ENST00000556922.1:c.588C>A | ENSP00000451560.1:p.Phe196Leu |
| ENST00000639847.1:c.588C>A | ENSP00000492011.1:p.Phe196Leu |