Linked Data
ClinVar Variation Id:
356249
dbSNP Id:
rs142243595
ExAC:
6:31911055 G / A
gnomAD v2:
6-31911055-G-A
gnomAD v3:
6-31943278-G-A
gnomAD v4:
6-31943278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31943278G>A , CM000668.2:g.31943278G>A | GRCh38 |
| NC_000006.11:g.31911055G>A , CM000668.1:g.31911055G>A | GRCh37 |
| NC_000006.10:g.32019034G>A | NCBI36 |
| NG_008191.1:g.2335G>A , LRG_136:g.2335G>A | |
| NG_011730.1:g.20790G>A , LRG_26:g.20790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.1228G>A | ENSP00000391354.3:p.Ala410Thr | |
| ENST00000452323.7:c.772G>A | ENSP00000392322.2:p.Ala258Thr | |
| ENST00000468407.2:c.1414G>A | ENSP00000512075.1:p.Ala472Thr | |
| ENST00000497706.6:c.775G>A | ENSP00000417482.2:p.Ala259Thr | |
| ENST00000695637.1:c.1009G>A | ENSP00000512074.1:p.Ala337Thr | |
| ENST00000695638.1:c.1414G>A | ENSP00000512076.1:p.Ala472Thr | |
| ENST00000695644.1:c.1018G>A | ENSP00000512079.1:p.Ala340Thr | |
| ENST00000695646.1:n.1011G>A | ||
| ENST00000299367.10:c.1414G>A MANE Select | ENSP00000299367.5:p.Ala472Thr | |
| ENST00000299367.9:c.1414G>A | ENSP00000299367.5:p.Ala472Thr | |
| ENST00000383177.7:c.735G>A | ||
| ENST00000442278.6:c.1018G>A | ENSP00000395683.2:p.Ala340Thr | |
| ENST00000452323.6:c.772G>A | ENSP00000392322.2:p.Ala258Thr | |
| ENST00000456570.5:c.955G>A | ENSP00000410815.1:p.Ala319Thr | |
| ENST00000469372.5:c.676G>A | ENSP00000418923.1:p.Ala226Thr | |
| ENST00000477310.1:c.727G>A | ENSP00000418996.1:p.Ala243Thr | |
| ENST00000482060.5:c.*1127G>A | ENSP00000418332.1:n.*1127G>A | |
| ENST00000485690.5:c.626G>A | ||
| ENST00000486124.5:n.1690G>A | ||
| ENST00000497706.5:c.775G>A | ENSP00000417482.1:p.Ala259Thr | |
| NM_000063.5:c.1414G>A | NP_000054.2:p.Ala472Thr | |
| NM_001145903.2:c.1018G>A | NP_001139375.1:p.Ala340Thr | |
| NM_001178063.2:c.772G>A | NP_001171534.1:p.Ala258Thr | |
| NM_001282457.1:c.676G>A | NP_001269386.1:p.Ala226Thr | |
| NM_001282458.1:c.1327G>A | NP_001269387.1:p.Ala443Thr | |
| NM_000063.6:c.1414G>A MANE Select | NP_000054.2:p.Ala472Thr | |
| NM_001145903.3:c.1018G>A | NP_001139375.1:p.Ala340Thr | |
| NM_001282457.2:c.676G>A | NP_001269386.1:p.Ala226Thr | |
| NM_001282458.2:c.1327G>A | NP_001269387.1:p.Ala443Thr | |
| NM_001178063.3:c.772G>A | NP_001171534.1:p.Ala258Thr |