Linked Data
ClinVar Variation Id:
707835
ClinVar RCV Id:
RCV000878996
dbSNP Id:
rs141340897
ExAC:
20:34843605 G / A
gnomAD v2:
20-34843605-G-A
gnomAD v3:
20-36255683-G-A
gnomAD v4:
20-36255683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36255683G>A , CM000682.2:g.36255683G>A | GRCh38 |
| NC_000020.10:g.34843605G>A , CM000682.1:g.34843605G>A | GRCh37 |
| NC_000020.9:g.34307019G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320849.9:c.1093G>A MANE Select | ENSP00000313674.4:p.Ala365Thr | |
| ENST00000679519.1:c.1276G>A | ENSP00000505952.1:p.Ala426Thr | |
| ENST00000679667.1:c.1093G>A | ENSP00000506354.1:p.Ala365Thr | |
| ENST00000680247.1:c.1093G>A | ENSP00000505295.1:p.Ala365Thr | |
| ENST00000680412.1:c.*181G>A | ENSP00000505137.1:n.*181G>A | |
| ENST00000680639.1:c.1093G>A | ENSP00000505405.1:p.Ala365Thr | |
| ENST00000680811.1:c.1093G>A | ENSP00000506185.1:p.Ala365Thr | |
| ENST00000680933.1:c.1093G>A | ENSP00000505061.1:p.Ala365Thr | |
| ENST00000320849.8:c.1093G>A | ENSP00000313674.4:p.Ala365Thr | |
| ENST00000373932.3:c.1093G>A | ENSP00000363043.3:p.Ala365Thr | |
| ENST00000397286.7:c.987+10757G>A | ENSP00000380455.3:n.987+10757G>A | |
| NM_001271874.1:c.1093G>A | NP_001258803.1:p.Ala365Thr | |
| NM_015511.4:c.1093G>A | NP_056326.2:p.Ala365Thr | |
| XM_006723770.2:c.1093G>A | XP_006723833.1:p.Ala365Thr | |
| XM_011528762.1:c.1093G>A | XP_011527064.1:p.Ala365Thr | |
| XM_011528763.1:c.1093G>A | XP_011527065.1:p.Ala365Thr | |
| XM_006723770.3:c.1093G>A | XP_006723833.1:p.Ala365Thr | |
| XM_011528762.2:c.1093G>A | XP_011527064.1:p.Ala365Thr | |
| XM_011528763.2:c.1093G>A | XP_011527065.1:p.Ala365Thr | |
| NM_001271874.2:c.1093G>A MANE Select | NP_001258803.1:p.Ala365Thr | |
| NM_015511.5:c.1093G>A | NP_056326.2:p.Ala365Thr |