Linked Data
dbSNP Id:
rs780015723
ExAC:
14:77793829 C / A
gnomAD v2:
14-77793829-C-A
gnomAD v4:
14-77327486-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77327486C>A , CM000676.2:g.77327486C>A | GRCh38 |
| NC_000014.8:g.77793829C>A , CM000676.1:g.77793829C>A | GRCh37 |
| NC_000014.7:g.76863582C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216465.10:c.150C>A MANE Select | ENSP00000216465.5:p.Phe50Leu | |
| ENST00000216465.9:c.150C>A | ENSP00000216465.5:p.Phe50Leu | |
| ENST00000349555.7:c.150C>A | ENSP00000314404.5:p.Phe50Leu | |
| ENST00000361389.8:c.-16C>A | ENSP00000354959.4:n.-16C>A | |
| ENST00000393734.5:c.-16C>A | ENSP00000377335.1:n.-16C>A | |
| ENST00000553431.5:n.281C>A | ||
| ENST00000553586.5:c.153C>A | ENSP00000451976.1:p.Phe51Leu | |
| ENST00000553838.5:n.320C>A | ||
| ENST00000554279.5:c.150C>A | ENSP00000452498.1:p.Phe50Leu | |
| ENST00000554846.5:c.-16C>A | ENSP00000452531.1:n.-16C>A | |
| ENST00000555093.1:n.4199C>A | ||
| ENST00000555583.1:c.-16C>A | ENSP00000452346.1:n.-16C>A | |
| ENST00000556627.5:c.136-426C>A | ENSP00000450487.1:n.136-426C>A | |
| ENST00000556914.5:n.230C>A | ||
| ENST00000557053.5:c.-16C>A | ENSP00000451150.1:n.-16C>A | |
| ENST00000557639.5:c.-16C>A | ENSP00000451927.1:n.-16C>A | |
| NM_001312660.1:c.-16C>A | NP_001299589.1:n.-16C>A | |
| NM_001513.3:c.-16C>A | NP_001504.2:n.-16C>A | |
| NM_145870.2:c.150C>A | NP_665877.1:p.Phe50Leu | |
| NM_145871.2:c.150C>A | NP_665878.2:p.Phe50Leu | |
| XM_005267559.2:c.-16C>A | XP_005267616.1:n.-16C>A | |
| XM_011536670.1:c.-327C>A | XP_011534972.1:n.-327C>A | |
| XM_011536671.1:c.153C>A | XP_011534973.1:p.Phe51Leu | |
| NM_001363703.1:c.153C>A | NP_001350632.1:p.Phe51Leu | |
| XM_011536670.2:c.-327C>A | XP_011534972.1:n.-327C>A | |
| XM_011536671.2:c.153C>A | XP_011534973.1:p.Phe51Leu | |
| XM_024449549.1:c.-327C>A | XP_024305317.1:n.-327C>A | |
| XM_024449550.1:c.-16C>A | XP_024305318.1:n.-16C>A | |
| XM_024449551.1:c.-16C>A | XP_024305319.1:n.-16C>A | |
| XM_024449552.1:c.-16C>A | XP_024305320.1:n.-16C>A | |
| NM_145870.3:c.150C>A MANE Select | NP_665877.1:p.Phe50Leu | |
| NM_001312660.2:c.-16C>A | NP_001299589.1:n.-16C>A | |
| NM_001363703.2:c.153C>A | NP_001350632.1:p.Phe51Leu | |
| NM_145871.3:c.150C>A | NP_665878.2:p.Phe50Leu |