Linked Data
ClinVar Variation Id:
515922
ClinVar RCV Id:
RCV001104138
RCV000863727
RCV001104443
RCV001104139
RCV001698053
RCV002294359
RCV004547744
dbSNP Id:
rs148856160
ExAC:
11:32410605 C / T
gnomAD v2:
11-32410605-C-T
gnomAD v3:
11-32389059-C-T
gnomAD v4:
11-32389059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32389059C>T , CM000673.2:g.32389059C>T | GRCh38 |
| NC_000011.9:g.32410605C>T , CM000673.1:g.32410605C>T | GRCh37 |
| NC_000011.8:g.32367181C>T | NCBI36 |
| NG_009272.1:g.51483G>A , LRG_525:g.51483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1508G>A | ENSP00000331327.5:p.Ter503= | |
| ENST00000379077.9:c.*752G>A | ENSP00000368368.5:n.*752G>A | |
| ENST00000379079.8:c.908G>A | ENSP00000368370.2:p.Ter303= | |
| ENST00000448076.9:c.1559G>A | ENSP00000413452.5:p.Ter520= | |
| ENST00000452863.10:c.1568G>A MANE Select | ENSP00000415516.5:p.Ter523= | |
| ENST00000639563.3:c.1517G>A | ENSP00000492269.3:p.Ter506= | |
| ENST00000639907.2:n.702G>A | ||
| ENST00000640146.2:c.893G>A | ENSP00000491984.2:p.Ter298= | |
| ENST00000650745.1:n.1378G>A | ||
| ENST00000650861.1:n.2140G>A | ||
| ENST00000650986.1:n.231G>A | ||
| ENST00000651459.1:c.339G>A | ||
| ENST00000651533.1:n.605G>A | ||
| ENST00000651668.1:n.505G>A | ||
| ENST00000651794.1:n.1411G>A | ||
| ENST00000651819.1:n.493G>A | ||
| ENST00000652579.1:n.828G>A | ||
| ENST00000652724.1:n.758G>A | ||
| ENST00000332351.7:c.1553G>A | ENSP00000331327.3:p.Ter518= | |
| ENST00000379077.7:c.*752G>A | ENSP00000368368.3:n.*752G>A | |
| ENST00000379079.6:c.908G>A | ENSP00000368370.2:p.Ter303= | |
| ENST00000448076.7:c.1544G>A | ENSP00000413452.3:p.Ter515= | |
| ENST00000452863.7:c.1493G>A | ENSP00000415516.3:p.Ter498= | |
| ENST00000527882.5:c.534G>A | ||
| ENST00000530998.5:c.866G>A | ENSP00000435307.1:p.Ter289= | |
| NM_000378.4:c.1493G>A | NP_000369.3:p.Ter498= | |
| NM_001198551.1:c.908G>A , LRG_525t2:c.908G>A | NP_001185480.1:p.Ter303= | |
| NM_001198552.1:c.866G>A | NP_001185481.1:p.Ter289= | |
| NM_024424.3:c.1544G>A | NP_077742.2:p.Ter515= | |
| NM_024426.4:c.1553G>A | NP_077744.3:p.Ter518= | |
| NM_000378.5:c.1508G>A | NP_000369.4:p.Ter503= | |
| NM_024424.4:c.1559G>A | NP_077742.3:p.Ter520= | |
| NM_024426.5:c.1568G>A | NP_077744.4:p.Ter523= | |
| NM_001367854.1:c.380G>A | NP_001354783.1:p.Ter127= | |
| NR_160306.1:n.1900G>A | ||
| NM_000378.6:c.1508G>A | NP_000369.4:p.Ter503= | |
| NM_001198552.2:c.866G>A | NP_001185481.1:p.Ter289= | |
| NM_024424.5:c.1559G>A | NP_077742.3:p.Ter520= | |
| NM_024426.6:c.1568G>A MANE Select | NP_077744.4:p.Ter523= |