Linked Data
ClinVar Variation Id:
242897
ClinVar RCV Id:
RCV000490936
dbSNP Id:
rs746800707
ExAC:
20:34828310 G / A
gnomAD v2:
20-34828310-G-A
gnomAD v3:
20-36240388-G-A
gnomAD v4:
20-36240388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36240388G>A , CM000682.2:g.36240388G>A | GRCh38 |
| NC_000020.10:g.34828310G>A , CM000682.1:g.34828310G>A | GRCh37 |
| NC_000020.9:g.34291724G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320849.9:c.520G>A MANE Select | ENSP00000313674.4:p.Val174Met | |
| ENST00000679519.1:c.520G>A | ENSP00000505952.1:p.Val174Met | |
| ENST00000679667.1:c.520G>A | ENSP00000506354.1:p.Val174Met | |
| ENST00000680185.1:n.608G>A | ||
| ENST00000680247.1:c.520G>A | ENSP00000505295.1:p.Val174Met | |
| ENST00000680412.1:c.520G>A | ENSP00000505137.1:p.Val174Met | |
| ENST00000680639.1:c.520G>A | ENSP00000505405.1:p.Val174Met | |
| ENST00000680811.1:c.520G>A | ENSP00000506185.1:p.Val174Met | |
| ENST00000680933.1:c.520G>A | ENSP00000505061.1:p.Val174Met | |
| ENST00000681771.1:n.594G>A | ||
| ENST00000320849.8:c.520G>A | ENSP00000313674.4:p.Val174Met | |
| ENST00000373932.3:c.520G>A | ENSP00000363043.3:p.Val174Met | |
| ENST00000397286.7:c.520G>A | ENSP00000380455.3:p.Val174Met | |
| NM_001271874.1:c.520G>A | NP_001258803.1:p.Val174Met | |
| NM_015511.4:c.520G>A | NP_056326.2:p.Val174Met | |
| XM_006723770.2:c.520G>A | XP_006723833.1:p.Val174Met | |
| XM_011528762.1:c.520G>A | XP_011527064.1:p.Val174Met | |
| XM_011528763.1:c.520G>A | XP_011527065.1:p.Val174Met | |
| XM_006723770.3:c.520G>A | XP_006723833.1:p.Val174Met | |
| XM_011528762.2:c.520G>A | XP_011527064.1:p.Val174Met | |
| XM_011528763.2:c.520G>A | XP_011527065.1:p.Val174Met | |
| NM_001271874.2:c.520G>A MANE Select | NP_001258803.1:p.Val174Met | |
| NM_015511.5:c.520G>A | NP_056326.2:p.Val174Met |