Linked Data
ClinVar Variation Id:
2643171
ClinVar RCV Id:
RCV003398183
dbSNP Id:
rs749529891
gnomAD v2:
12-70049095-C-A
gnomAD v3:
12-69655315-C-A
gnomAD v4:
12-69655315-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69655315C>A , CM000674.2:g.69655315C>A | GRCh38 |
| NC_000012.11:g.70049095C>A , CM000674.1:g.70049095C>A | GRCh37 |
| NC_000012.10:g.68335362C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330891.10:c.1599G>T MANE Select | ENSP00000332413.5:p.Gly533= | |
| ENST00000330891.9:c.1599G>T | ENSP00000332413.5:p.Gly533= | |
| ENST00000331471.8:c.1101-11528G>T | ENSP00000329064.4:n.1101-11528G>T | |
| ENST00000488961.5:c.960G>T | ENSP00000433213.1:p.Gly320= | |
| ENST00000547208.5:c.*119-11528G>T | ENSP00000449868.1:n.*119-11528G>T | |
| ENST00000553096.5:c.1281G>T | ENSP00000449548.1:p.Gly427= | |
| NM_001282613.1:c.1281G>T | NP_001269542.1:p.Gly427= | |
| NM_001282614.1:c.1101-11528G>T | NP_001269543.1:n.1101-11528G>T | |
| NM_032735.2:c.1599G>T | NP_116124.2:p.Gly533= | |
| NM_152439.3:c.960G>T | NP_689652.2:p.Gly320= | |
| XM_006719252.2:c.1365G>T | XP_006719315.1:p.Gly455= | |
| XM_011537961.1:c.1281G>T | XP_011536263.1:p.Gly427= | |
| XM_011537962.1:c.1113G>T | XP_011536264.1:p.Gly371= | |
| XM_011537963.1:c.1113G>T | XP_011536265.1:p.Gly371= | |
| XM_011537964.1:c.1113G>T | XP_011536266.1:p.Gly371= | |
| XM_011537965.1:c.627G>T | XP_011536267.1:p.Gly209= | |
| XM_011537962.2:c.1113G>T | XP_011536264.1:p.Gly371= | |
| XM_011537965.2:c.627G>T | XP_011536267.1:p.Gly209= | |
| XM_024448853.1:c.1599G>T | XP_024304621.1:p.Gly533= | |
| XM_024448854.1:c.1281G>T | XP_024304622.1:p.Gly427= | |
| XM_024448855.1:c.1113G>T | XP_024304623.1:p.Gly371= | |
| XM_024448856.1:c.1113G>T | XP_024304624.1:p.Gly371= | |
| XR_001749451.1:n.346+16301C>A | ||
| XR_945062.2:n.346+16301C>A | ||
| NM_032735.3:c.1599G>T MANE Select | NP_116124.2:p.Gly533= | |
| NM_001282613.2:c.1281G>T | NP_001269542.1:p.Gly427= | |
| NM_001282614.2:c.1101-11528G>T | NP_001269543.1:n.1101-11528G>T | |
| NM_152439.4:c.960G>T | NP_689652.2:p.Gly320= |