Linked Data
ClinVar Variation Id:
543134
dbSNP Id:
rs377446096
ExAC:
11:32417909 C / T
gnomAD v2:
11-32417909-C-T
gnomAD v3:
11-32396363-C-T
gnomAD v4:
11-32396363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396363C>T , CM000673.2:g.32396363C>T | GRCh38 |
| NC_000011.9:g.32417909C>T , CM000673.1:g.32417909C>T | GRCh37 |
| NC_000011.8:g.32374485C>T | NCBI36 |
| NG_009272.1:g.44179G>A , LRG_525:g.44179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1107G>A | ENSP00000331327.5:p.Ser369= | |
| ENST00000379077.9:c.*342G>A | ENSP00000368368.5:n.*342G>A | |
| ENST00000379079.8:c.507G>A | ENSP00000368370.2:p.Ser169= | |
| ENST00000448076.9:c.1158G>A | ENSP00000413452.5:p.Ser386= | |
| ENST00000452863.10:c.1158G>A MANE Select | ENSP00000415516.5:p.Ser386= | |
| ENST00000526685.2:n.612G>A | ||
| ENST00000639563.3:c.1107G>A | ENSP00000492269.3:p.Ser369= | |
| ENST00000639907.2:n.301G>A | ||
| ENST00000640146.2:c.483G>A | ENSP00000491984.2:p.Ser161= | |
| ENST00000650861.1:n.1739G>A | ||
| ENST00000651459.1:c.35+3585G>A | ||
| ENST00000651668.1:n.95G>A | ||
| ENST00000651794.1:n.901G>A | ||
| ENST00000651819.1:n.83G>A | ||
| ENST00000652579.1:n.318G>A | ||
| ENST00000652724.1:n.348G>A | ||
| ENST00000332351.7:c.1143G>A | ENSP00000331327.3:p.Ser381= | |
| ENST00000379077.7:c.*342G>A | ENSP00000368368.3:n.*342G>A | |
| ENST00000379079.6:c.507G>A | ENSP00000368370.2:p.Ser169= | |
| ENST00000448076.7:c.1143G>A | ENSP00000413452.3:p.Ser381= | |
| ENST00000452863.7:c.1092G>A | ENSP00000415516.3:p.Ser364= | |
| ENST00000526685.1:c.-31G>A | ENSP00000436292.1:n.-31G>A | |
| ENST00000527882.5:c.214G>A | ||
| ENST00000530998.5:c.456G>A | ENSP00000435307.1:p.Ser152= | |
| NM_000378.4:c.1092G>A | NP_000369.3:p.Ser364= | |
| NM_001198551.1:c.507G>A , LRG_525t2:c.507G>A | NP_001185480.1:p.Ser169= | |
| NM_001198552.1:c.456G>A | NP_001185481.1:p.Ser152= | |
| NM_024424.3:c.1143G>A | NP_077742.2:p.Ser381= | |
| NM_024426.4:c.1143G>A | NP_077744.3:p.Ser381= | |
| NM_000378.5:c.1107G>A | NP_000369.4:p.Ser369= | |
| NM_024424.4:c.1158G>A | NP_077742.3:p.Ser386= | |
| NM_024426.5:c.1158G>A | NP_077744.4:p.Ser386= | |
| NM_001367854.1:c.-31G>A | NP_001354783.1:n.-31G>A | |
| NR_160306.1:n.1490G>A | ||
| NM_000378.6:c.1107G>A | NP_000369.4:p.Ser369= | |
| NM_001198552.2:c.456G>A | NP_001185481.1:p.Ser152= | |
| NM_024424.5:c.1158G>A | NP_077742.3:p.Ser386= | |
| NM_024426.6:c.1158G>A MANE Select | NP_077744.4:p.Ser386= |