Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069130G>T , CM000665.2:g.165069130G>T | GRCh38 |
| NC_000003.11:g.164786918G>T , CM000665.1:g.164786918G>T | GRCh37 |
| NC_000003.10:g.166269612G>T | NCBI36 |
| NG_017043.1:g.14366C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.321C>A MANE Select | ENSP00000264382.3:p.Phe107Leu | |
| ENST00000264382.7:c.321C>A | ENSP00000264382.3:p.Phe107Leu | |
| ENST00000476593.1:c.*196C>A | ENSP00000419450.1:n.*196C>A | |
| NM_001041.3:c.321C>A | NP_001032.2:p.Phe107Leu | |
| XM_011513078.1:c.222C>A | XP_011511380.1:p.Phe74Leu | |
| XM_011513078.2:c.222C>A | XP_011511380.1:p.Phe74Leu | |
| NM_001041.4:c.321C>A MANE Select | NP_001032.2:p.Phe107Leu |