Linked Data
ClinVar Variation Id:
1057104
ClinVar RCV Id:
RCV001366025
dbSNP Id:
rs531283439
ExAC:
1:197390535 G / A
gnomAD v2:
1-197390535-G-A
gnomAD v3:
1-197421405-G-A
gnomAD v4:
1-197421405-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421405G>A , CM000663.2:g.197421405G>A | GRCh38 |
| NC_000001.10:g.197390535G>A , CM000663.1:g.197390535G>A | GRCh37 |
| NC_000001.9:g.195657158G>A | NCBI36 |
| NG_008483.1:g.158128G>A | |
| NG_008483.2:g.224944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1577G>A MANE Select | ENSP00000356370.3:p.Arg526Gln | |
| ENST00000638467.1:c.1577G>A | ENSP00000491102.1:p.Arg526Gln | |
| ENST00000681519.1:c.458G>A | ENSP00000505267.1:p.Arg153Gln | |
| ENST00000367397.1:c.-281G>A | ENSP00000356367.1:n.-281G>A | |
| ENST00000367399.6:c.1241G>A | ENSP00000356369.2:p.Arg414Gln | |
| ENST00000367400.7:c.1577G>A | ENSP00000356370.3:p.Arg526Gln | |
| ENST00000476483.1:n.537G>A | ||
| ENST00000484075.5:c.1577G>A | ENSP00000433932.1:p.Arg526Gln | |
| ENST00000535699.5:c.1370G>A | ENSP00000438786.1:p.Arg457Gln | |
| ENST00000538660.5:c.1577G>A | ENSP00000438091.1:p.Arg526Gln | |
| NM_001193640.1:c.1241G>A | NP_001180569.1:p.Arg414Gln | |
| NM_001257965.1:c.1370G>A | NP_001244894.1:p.Arg457Gln | |
| NM_001257966.1:c.1577G>A | NP_001244895.1:p.Arg526Gln | |
| NM_201253.2:c.1577G>A | NP_957705.1:p.Arg526Gln | |
| NR_047563.1:n.1786G>A | ||
| NR_047564.1:n.1786G>A | ||
| XM_011509365.1:c.1577G>A | XP_011507667.1:p.Arg526Gln | |
| XM_011509366.1:c.1577G>A | XP_011507668.1:p.Arg526Gln | |
| XM_011509367.1:c.1577G>A | XP_011507669.1:p.Arg526Gln | |
| XM_011509368.1:c.995G>A | XP_011507670.1:p.Arg332Gln | |
| XM_011509369.1:c.20G>A | XP_011507671.1:p.Arg7Gln | |
| XM_011509365.2:c.1577G>A | XP_011507667.1:p.Arg526Gln | |
| XM_011509369.2:c.20G>A | XP_011507671.1:p.Arg7Gln | |
| XM_017000851.1:c.734G>A | XP_016856340.1:p.Arg245Gln | |
| XM_017000852.1:c.1577G>A | XP_016856341.1:p.Arg526Gln | |
| NM_201253.3:c.1577G>A MANE Select | NP_957705.1:p.Arg526Gln | |
| NM_001193640.2:c.1241G>A | NP_001180569.1:p.Arg414Gln | |
| NM_001257965.2:c.1370G>A | NP_001244894.1:p.Arg457Gln | |
| NR_047563.2:n.1738G>A | ||
| NR_047564.2:n.1738G>A | ||
| NM_001257966.2:c.1577G>A | NP_001244895.1:p.Arg526Gln |