Linked Data
ClinVar Variation Id:
474741
dbSNP Id:
rs75856434
ExAC:
3:38888500 G / A
gnomAD v2:
3-38888500-G-A
gnomAD v3:
3-38847009-G-A
gnomAD v4:
3-38847009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38847009G>A , CM000665.2:g.38847009G>A | GRCh38 |
| NC_000003.11:g.38888500G>A , CM000665.1:g.38888500G>A | GRCh37 |
| NC_000003.10:g.38863504G>A | NCBI36 |
| NG_033859.1:g.108553C>T | |
| NG_033859.2:g.209978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5061C>T MANE Select | ENSP00000307599.3:p.Phe1687= | |
| ENST00000668754.1:c.5061C>T | ENSP00000499569.1:p.Phe1687= | |
| ENST00000675223.1:c.5140C>T | ENSP00000502481.1:n.5140C>T | |
| ENST00000675672.1:c.5115C>T | ENSP00000502446.1:n.5115C>T | |
| ENST00000675892.1:c.4881C>T | ENSP00000502318.1:p.Phe1627= | |
| ENST00000676045.1:c.5105C>T | ENSP00000501685.1:n.5105C>T | |
| ENST00000676176.1:c.4680C>T | ENSP00000501891.1:p.Phe1560= | |
| ENST00000302328.7:c.5061C>T | ENSP00000307599.3:p.Phe1687= | |
| ENST00000456224.7:c.4947C>T | ENSP00000416757.3:p.Phe1649= | |
| NM_001287223.1:c.5061C>T | NP_001274152.1:p.Phe1687= | |
| NM_014139.2:c.5061C>T | NP_054858.2:p.Phe1687= | |
| XM_011533320.1:c.5061C>T | XP_011531622.1:p.Phe1687= | |
| XM_011533321.1:c.4398C>T | XP_011531623.1:p.Phe1466= | |
| XM_011533322.1:c.3609C>T | XP_011531624.1:p.Phe1203= | |
| NM_001349253.1:c.5061C>T | NP_001336182.1:p.Phe1687= | |
| XM_011533321.2:c.4398C>T | XP_011531623.1:p.Phe1466= | |
| XM_017005647.1:c.5436C>T | XP_016861136.1:p.Phe1812= | |
| XM_017005648.1:c.4863C>T | XP_016861137.1:p.Phe1621= | |
| XM_017005650.1:c.5061C>T | XP_016861139.1:p.Phe1687= | |
| XM_017005651.1:c.4788C>T | XP_016861140.1:p.Phe1596= | |
| XM_017005653.1:c.3465C>T | XP_016861142.1:p.Phe1155= | |
| NM_001349253.2:c.5061C>T MANE Select | NP_001336182.1:p.Phe1687= | |
| NM_014139.3:c.5061C>T | NP_054858.2:p.Phe1687= |