Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130381795T>C , CM000669.2:g.130381795T>C | GRCh38 |
| NC_000007.13:g.130021636T>C , CM000669.1:g.130021636T>C | GRCh37 |
| NC_000007.12:g.129808872T>C | NCBI36 |
| NG_042276.1:g.6425T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.313T>C MANE Select | NP_001859.1:p.Phe105Leu |
| ENST00000011292.8:c.313T>C MANE Select | ENSP00000011292.3:p.Phe105Leu |
| NM_001868.3:c.313T>C | NP_001859.1:p.Phe105Leu |
| ENST00000011292.7:c.313T>C | ENSP00000011292.3:p.Phe105Leu |
| ENST00000476062.5:c.49T>C | ENSP00000419408.1:p.Phe17Leu |
| ENST00000481342.5:c.49T>C | ENSP00000420218.1:p.Phe17Leu |
| ENST00000484324.1:c.49T>C | ENSP00000419497.1:p.Phe17Leu |
| ENST00000491460.5:n.275T>C | |
| ENST00000604896.5:c.141+649T>C | ENSP00000475021.1:n.141+649T>C |