Linked Data
ClinVar Variation Id:
304422
dbSNP Id:
rs761913397
ExAC:
11:32450132 C / G
gnomAD v2:
11-32450132-C-G
gnomAD v3:
11-32428586-C-G
gnomAD v4:
11-32428586-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32428586C>G , CM000673.2:g.32428586C>G | GRCh38 |
| NC_000011.9:g.32450132C>G , CM000673.1:g.32450132C>G | GRCh37 |
| NC_000011.8:g.32406708C>G | NCBI36 |
| NG_009272.1:g.11956G>C , LRG_525:g.11956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.695G>C | ENSP00000331327.5:p.Ser232Thr | |
| ENST00000379077.9:c.695G>C | ENSP00000368368.5:p.Ser232Thr | |
| ENST00000379079.8:c.44G>C | ENSP00000368370.2:p.Ser15Thr | |
| ENST00000448076.9:c.695G>C | ENSP00000413452.5:p.Ser232Thr | |
| ENST00000452863.10:c.695G>C MANE Select | ENSP00000415516.5:p.Ser232Thr | |
| ENST00000639563.3:c.695G>C | ENSP00000492269.3:p.Ser232Thr | |
| ENST00000640146.2:c.71G>C | ENSP00000491984.2:p.Ser24Thr | |
| ENST00000332351.7:c.680G>C | ENSP00000331327.3:p.Ser227Thr | |
| ENST00000379077.7:c.680G>C | ENSP00000368368.3:p.Ser227Thr | |
| ENST00000379079.6:c.44G>C | ENSP00000368370.2:p.Ser15Thr | |
| ENST00000448076.7:c.680G>C | ENSP00000413452.3:p.Ser227Thr | |
| ENST00000452863.7:c.680G>C | ENSP00000415516.3:p.Ser227Thr | |
| ENST00000527775.1:c.-68G>C | ENSP00000435351.1:n.-68G>C | |
| ENST00000530998.5:c.44G>C | ENSP00000435307.1:p.Ser15Thr | |
| NM_000378.4:c.680G>C | NP_000369.3:p.Ser227Thr | |
| NM_001198551.1:c.44G>C , LRG_525t2:c.44G>C | NP_001185480.1:p.Ser15Thr | |
| NM_001198552.1:c.44G>C | NP_001185481.1:p.Ser15Thr | |
| NM_024424.3:c.680G>C | NP_077742.2:p.Ser227Thr | |
| NM_024426.4:c.680G>C | NP_077744.3:p.Ser227Thr | |
| NM_000378.5:c.695G>C | NP_000369.4:p.Ser232Thr | |
| NM_024424.4:c.695G>C | NP_077742.3:p.Ser232Thr | |
| NM_024426.5:c.695G>C | NP_077744.4:p.Ser232Thr | |
| NR_160306.1:n.874G>C | ||
| NM_000378.6:c.695G>C | NP_000369.4:p.Ser232Thr | |
| NM_001198552.2:c.44G>C | NP_001185481.1:p.Ser15Thr | |
| NM_024424.5:c.695G>C | NP_077742.3:p.Ser232Thr | |
| NM_024426.6:c.695G>C MANE Select | NP_077744.4:p.Ser232Thr |