Linked Data
ClinVar Variation Id:
347955
dbSNP Id:
rs373776053
ExAC:
4:159593620 G / A
gnomAD v2:
4-159593620-G-A
gnomAD v3:
4-158672468-G-A
gnomAD v4:
4-158672468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158672468G>A , CM000666.2:g.158672468G>A | GRCh38 |
| NC_000004.11:g.159593620G>A , CM000666.1:g.159593620G>A | GRCh37 |
| NC_000004.10:g.159813070G>A | NCBI36 |
| NG_007078.2:g.5127G>A | |
| NG_033150.1:g.4788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436096.3:n.263G>A | ||
| ENST00000507475.6:n.156G>A | ||
| ENST00000512251.6:n.501G>A | ||
| ENST00000682345.1:c.12G>A | ENSP00000508122.1:p.Pro4= | |
| ENST00000682409.1:n.121G>A | ||
| ENST00000682456.1:c.12G>A | ENSP00000508240.1:p.Pro4= | |
| ENST00000682601.1:n.203G>A | ||
| ENST00000682734.1:c.-672G>A | ENSP00000507860.1:n.-672G>A | |
| ENST00000683004.1:c.12G>A | ENSP00000506936.1:p.Pro4= | |
| ENST00000683079.1:c.12G>A | ENSP00000507296.1:p.Pro4= | |
| ENST00000683081.1:c.12G>A | ENSP00000507722.1:p.Pro4= | |
| ENST00000683305.1:c.-75G>A | ENSP00000508043.1:n.-75G>A | |
| ENST00000683448.1:c.-113G>A | ENSP00000506931.1:n.-113G>A | |
| ENST00000683478.1:c.12G>A | ENSP00000507793.1:p.Pro4= | |
| ENST00000683483.1:c.12G>A | ENSP00000507719.1:p.Pro4= | |
| ENST00000683750.1:n.135G>A | ||
| ENST00000683751.1:c.-113G>A | ENSP00000506944.1:n.-113G>A | |
| ENST00000684036.1:c.-402G>A | ENSP00000507276.1:n.-402G>A | |
| ENST00000684129.1:c.-717G>A | ENSP00000507174.1:n.-717G>A | |
| ENST00000684296.1:c.12G>A | ENSP00000507740.1:p.Pro4= | |
| ENST00000684505.1:c.12G>A | ENSP00000508237.1:p.Pro4= | |
| ENST00000684552.1:c.12G>A | ENSP00000506899.1:p.Pro4= | |
| ENST00000684611.1:n.153G>A | ||
| ENST00000684622.1:c.12G>A | ENSP00000507546.1:p.Pro4= | |
| ENST00000684627.1:c.-560G>A | ENSP00000507471.1:n.-560G>A | |
| ENST00000684641.1:c.12G>A | ENSP00000507642.1:p.Pro4= | |
| ENST00000684675.1:c.12G>A | ENSP00000506934.1:p.Pro4= | |
| ENST00000511912.6:c.12G>A MANE Select | ENSP00000426638.1:p.Pro4= | |
| ENST00000307738.5:c.12G>A | ENSP00000303552.5:p.Pro4= | |
| ENST00000436096.2:n.153G>A | ||
| ENST00000506422.1:n.64G>A | ||
| ENST00000507475.5:c.-113G>A | ENSP00000422735.1:n.-113G>A | |
| ENST00000510353.5:n.153G>A | ||
| ENST00000511912.5:c.12G>A | ENSP00000426638.1:p.Pro4= | |
| ENST00000512251.5:c.12G>A | ENSP00000425661.1:p.Pro4= | |
| NM_001281737.1:c.12G>A | NP_001268666.1:p.Pro4= | |
| NM_004453.3:c.12G>A | NP_004444.2:p.Pro4= | |
| NM_004453.4:c.12G>A MANE Select | NP_004444.2:p.Pro4= | |
| NM_001281737.2:c.12G>A | NP_001268666.1:p.Pro4= |