Linked Data
ClinVar Variation Id:
792544
ClinVar RCV Id:
RCV000975660
dbSNP Id:
rs774650640
gnomAD v2:
11-32414285-C-T
gnomAD v3:
11-32392739-C-T
gnomAD v4:
11-32392739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392739C>T , CM000673.2:g.32392739C>T | GRCh38 |
| NC_000011.9:g.32414285C>T , CM000673.1:g.32414285C>T | GRCh37 |
| NC_000011.8:g.32370861C>T | NCBI36 |
| NG_009272.1:g.47803G>A , LRG_525:g.47803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1230G>A | ENSP00000331327.5:p.Gln410= | |
| ENST00000379077.9:c.*465G>A | ENSP00000368368.5:n.*465G>A | |
| ENST00000379079.8:c.630G>A | ENSP00000368370.2:p.Gln210= | |
| ENST00000448076.9:c.1281G>A | ENSP00000413452.5:p.Gln427= | |
| ENST00000452863.10:c.1281G>A MANE Select | ENSP00000415516.5:p.Gln427= | |
| ENST00000526685.2:n.735G>A | ||
| ENST00000639563.3:c.1230G>A | ENSP00000492269.3:p.Gln410= | |
| ENST00000639907.2:n.424G>A | ||
| ENST00000640146.2:c.606G>A | ENSP00000491984.2:p.Gln202= | |
| ENST00000650745.1:n.490G>A | ||
| ENST00000650861.1:n.1862G>A | ||
| ENST00000651459.1:c.52G>A | ||
| ENST00000651533.1:n.327G>A | ||
| ENST00000651668.1:n.218G>A | ||
| ENST00000651794.1:n.1124G>A | ||
| ENST00000651819.1:n.206G>A | ||
| ENST00000652579.1:n.541G>A | ||
| ENST00000652724.1:n.471G>A | ||
| ENST00000332351.7:c.1266G>A | ENSP00000331327.3:p.Gln422= | |
| ENST00000379077.7:c.*465G>A | ENSP00000368368.3:n.*465G>A | |
| ENST00000379079.6:c.630G>A | ENSP00000368370.2:p.Gln210= | |
| ENST00000448076.7:c.1266G>A | ENSP00000413452.3:p.Gln422= | |
| ENST00000452863.7:c.1215G>A | ENSP00000415516.3:p.Gln405= | |
| ENST00000527882.5:c.321-675G>A | ||
| ENST00000530998.5:c.579G>A | ENSP00000435307.1:p.Gln193= | |
| NM_000378.4:c.1215G>A | NP_000369.3:p.Gln405= | |
| NM_001198551.1:c.630G>A , LRG_525t2:c.630G>A | NP_001185480.1:p.Gln210= | |
| NM_001198552.1:c.579G>A | NP_001185481.1:p.Gln193= | |
| NM_024424.3:c.1266G>A | NP_077742.2:p.Gln422= | |
| NM_024426.4:c.1266G>A | NP_077744.3:p.Gln422= | |
| NM_000378.5:c.1230G>A | NP_000369.4:p.Gln410= | |
| NM_024424.4:c.1281G>A | NP_077742.3:p.Gln427= | |
| NM_024426.5:c.1281G>A | NP_077744.4:p.Gln427= | |
| NM_001367854.1:c.93G>A | NP_001354783.1:p.Gln31= | |
| NR_160306.1:n.1613G>A | ||
| NM_000378.6:c.1230G>A | NP_000369.4:p.Gln410= | |
| NM_001198552.2:c.579G>A | NP_001185481.1:p.Gln193= | |
| NM_024424.5:c.1281G>A | NP_077742.3:p.Gln427= | |
| NM_024426.6:c.1281G>A MANE Select | NP_077744.4:p.Gln427= |