Linked Data
ClinVar Variation Id:
403610
dbSNP Id:
rs766054482
ExAC:
11:32438075 C / G
gnomAD v2:
11-32438075-C-G
gnomAD v3:
11-32416529-C-G
gnomAD v4:
11-32416529-C-G
MyVariant Identifiers:
chr11:g.32438075C>G (hg19)
chr11:g.32438075_32438078delinsGCAG (hg19)
chr11:g.32416529C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32416529C>G , CM000673.2:g.32416529C>G | GRCh38 |
| NC_000011.9:g.32438075C>G , CM000673.1:g.32438075C>G | GRCh37 |
| NC_000011.8:g.32394651C>G | NCBI36 |
| NG_009272.1:g.24013G>C , LRG_525:g.24013G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.965+1048G>C | ENSP00000331327.5:n.965+1048G>C | |
| ENST00000379077.9:c.*161G>C | ENSP00000368368.5:n.*161G>C | |
| ENST00000379079.8:c.326G>C | ENSP00000368370.2:p.Gly109Ala | |
| ENST00000448076.9:c.977G>C | ENSP00000413452.5:p.Gly326Ala | |
| ENST00000452863.10:c.977G>C MANE Select | ENSP00000415516.5:p.Gly326Ala | |
| ENST00000639563.3:c.965+1048G>C | ENSP00000492269.3:n.965+1048G>C | |
| ENST00000640146.2:c.341+1048G>C | ENSP00000491984.2:n.341+1048G>C | |
| ENST00000651794.1:n.720G>C | ||
| ENST00000332351.7:c.962G>C | ENSP00000331327.3:p.Gly321Ala | |
| ENST00000379077.7:c.*161G>C | ENSP00000368368.3:n.*161G>C | |
| ENST00000379079.6:c.326G>C | ENSP00000368370.2:p.Gly109Ala | |
| ENST00000448076.7:c.962G>C | ENSP00000413452.3:p.Gly321Ala | |
| ENST00000452863.7:c.950+1048G>C | ENSP00000415516.3:n.950+1048G>C | |
| ENST00000527775.1:c.215G>C | ENSP00000435351.1:p.Gly72Ala | |
| ENST00000527882.5:c.33G>C | ||
| ENST00000530998.5:c.314+1048G>C | ENSP00000435307.1:n.314+1048G>C | |
| NM_000378.4:c.950+1048G>C | NP_000369.3:n.950+1048G>C | |
| NM_001198551.1:c.326G>C , LRG_525t2:c.326G>C | NP_001185480.1:p.Gly109Ala | |
| NM_001198552.1:c.314+1048G>C | NP_001185481.1:n.314+1048G>C | |
| NM_024424.3:c.962G>C | NP_077742.2:p.Gly321Ala | |
| NM_024426.4:c.962G>C | NP_077744.3:p.Gly321Ala | |
| NM_000378.5:c.965+1048G>C | NP_000369.4:n.965+1048G>C | |
| NM_024424.4:c.977G>C | NP_077742.3:p.Gly326Ala | |
| NM_024426.5:c.977G>C | NP_077744.4:p.Gly326Ala | |
| NR_160306.1:n.1309G>C | ||
| NM_000378.6:c.965+1048G>C | NP_000369.4:n.965+1048G>C | |
| NM_001198552.2:c.314+1048G>C | NP_001185481.1:n.314+1048G>C | |
| NM_024424.5:c.977G>C | NP_077742.3:p.Gly326Ala | |
| NM_024426.6:c.977G>C MANE Select | NP_077744.4:p.Gly326Ala |