Linked Data
dbSNP Id:
rs8176785
ExAC:
11:20805286 G / A
gnomAD v2:
11-20805286-G-A
gnomAD v3:
11-20783740-G-A
gnomAD v4:
11-20783740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783740G>A , CM000673.2:g.20783740G>A | GRCh38 |
| NC_000011.9:g.20805286G>A , CM000673.1:g.20805286G>A | GRCh37 |
| NC_000011.8:g.20761862G>A | NCBI36 |
| NG_047064.1:g.119190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357134.10:c.245G>A MANE Select | ENSP00000349654.5:p.Arg82Gln | |
| ENST00000298925.9:c.329G>A | ENSP00000298925.5:p.Arg110Gln | |
| ENST00000325319.9:c.245G>A | ENSP00000317837.5:p.Arg82Gln | |
| ENST00000357134.9:c.245G>A | ENSP00000349654.5:p.Arg82Gln | |
| ENST00000524738.1:n.72G>A | ||
| ENST00000527873.5:n.266G>A | ||
| ENST00000528046.5:n.428G>A | ||
| ENST00000529595.1:n.133G>A | ||
| ENST00000532434.5:c.245G>A | ENSP00000437170.1:p.Arg82Gln | |
| ENST00000619031.4:c.-468G>A | ENSP00000479479.1:n.-468G>A | |
| NM_001288713.1:c.329G>A | NP_001275642.1:p.Arg110Gln | |
| NM_001288714.1:c.245G>A | NP_001275643.1:p.Arg82Gln | |
| NM_006157.4:c.245G>A | NP_006148.2:p.Arg82Gln | |
| NM_201551.2:c.245G>A | NP_963845.1:p.Arg82Gln | |
| NM_006157.5:c.245G>A MANE Select | NP_006148.2:p.Arg82Gln |