Linked Data
ClinVar Variation Id:
543156
dbSNP Id:
rs750018485
ExAC:
11:32421569 G / A
gnomAD v2:
11-32421569-G-A
gnomAD v3:
11-32400023-G-A
gnomAD v4:
11-32400023-G-A
COSMIC:
COSM296797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400023G>A , CM000673.2:g.32400023G>A | GRCh38 |
| NC_000011.9:g.32421569G>A , CM000673.1:g.32421569G>A | GRCh37 |
| NC_000011.8:g.32378145G>A | NCBI36 |
| NG_009272.1:g.40519C>T , LRG_525:g.40519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.987C>T | ENSP00000331327.5:p.Ser329= | |
| ENST00000379077.9:c.*222C>T | ENSP00000368368.5:n.*222C>T | |
| ENST00000379079.8:c.387C>T | ENSP00000368370.2:p.Ser129= | |
| ENST00000448076.9:c.1038C>T | ENSP00000413452.5:p.Ser346= | |
| ENST00000452863.10:c.1038C>T MANE Select | ENSP00000415516.5:p.Ser346= | |
| ENST00000526685.2:n.492C>T | ||
| ENST00000639563.3:c.987C>T | ENSP00000492269.3:p.Ser329= | |
| ENST00000639907.2:n.181C>T | ||
| ENST00000640146.2:c.363C>T | ENSP00000491984.2:p.Ser121= | |
| ENST00000651794.1:n.781C>T | ||
| ENST00000652579.1:n.198C>T | ||
| ENST00000652724.1:n.228C>T | ||
| ENST00000332351.7:c.1023C>T | ENSP00000331327.3:p.Ser341= | |
| ENST00000379077.7:c.*222C>T | ENSP00000368368.3:n.*222C>T | |
| ENST00000379079.6:c.387C>T | ENSP00000368370.2:p.Ser129= | |
| ENST00000448076.7:c.1023C>T | ENSP00000413452.3:p.Ser341= | |
| ENST00000452863.7:c.972C>T | ENSP00000415516.3:p.Ser324= | |
| ENST00000526685.1:c.-151C>T | ENSP00000436292.1:n.-151C>T | |
| ENST00000527775.1:c.276C>T | ENSP00000435351.1:p.Ser92= | |
| ENST00000527882.5:c.94C>T | ||
| ENST00000530998.5:c.336C>T | ENSP00000435307.1:p.Ser112= | |
| NM_000378.4:c.972C>T | NP_000369.3:p.Ser324= | |
| NM_001198551.1:c.387C>T , LRG_525t2:c.387C>T | NP_001185480.1:p.Ser129= | |
| NM_001198552.1:c.336C>T | NP_001185481.1:p.Ser112= | |
| NM_024424.3:c.1023C>T | NP_077742.2:p.Ser341= | |
| NM_024426.4:c.1023C>T | NP_077744.3:p.Ser341= | |
| NM_000378.5:c.987C>T | NP_000369.4:p.Ser329= | |
| NM_024424.4:c.1038C>T | NP_077742.3:p.Ser346= | |
| NM_024426.5:c.1038C>T | NP_077744.4:p.Ser346= | |
| NM_001367854.1:c.-151C>T | NP_001354783.1:n.-151C>T | |
| NR_160306.1:n.1370C>T | ||
| NM_000378.6:c.987C>T | NP_000369.4:p.Ser329= | |
| NM_001198552.2:c.336C>T | NP_001185481.1:p.Ser112= | |
| NM_024424.5:c.1038C>T | NP_077742.3:p.Ser346= | |
| NM_024426.6:c.1038C>T MANE Select | NP_077744.4:p.Ser346= |