Linked Data
ClinVar Variation Id:
681
ClinVar RCV Id:
RCV000000716
dbSNP Id:
rs118204450
ExAC:
1:24172327 G / A
gnomAD v2:
1-24172327-G-A
gnomAD v3:
1-23845837-G-A
gnomAD v4:
1-23845837-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23845837G>A , CM000663.2:g.23845837G>A | GRCh38 |
| NC_000001.10:g.24172327G>A , CM000663.1:g.24172327G>A | GRCh37 |
| NC_000001.9:g.24044914G>A | NCBI36 |
| NG_013346.1:g.27533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1279C>T MANE Select | ENSP00000363603.3:p.Gln427Ter | |
| ENST00000374479.3:c.1279C>T | ENSP00000363603.3:p.Gln427Ter | |
| NM_000147.4:c.1279C>T | NP_000138.2:p.Gln427Ter | |
| XM_005245821.1:c.904C>T | XP_005245878.1:p.Gln302Ter | |
| XM_011541167.1:c.646C>T | XP_011539469.1:p.Gln216Ter | |
| XM_005245821.3:c.904C>T | XP_005245878.1:p.Gln302Ter | |
| XM_011541167.3:c.646C>T | XP_011539469.1:p.Gln216Ter | |
| XM_017000905.2:c.976C>T | XP_016856394.1:p.Gln326Ter | |
| NM_000147.5:c.1279C>T MANE Select | NP_000138.2:p.Gln427Ter | |
| NR_174379.1:n.1457C>T | ||
| NR_174380.1:n.1506C>T | ||
| NR_174381.1:n.1345C>T | ||
| NR_174382.1:n.1742C>T |