Linked Data
ClinVar Variation Id:
2948230
ClinVar RCV Id:
RCV003807052
dbSNP Id:
rs2133036645
gnomAD v4:
11-32417578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32417578C>T , CM000673.2:g.32417578C>T | GRCh38 |
| NC_000011.9:g.32439124C>T , CM000673.1:g.32439124C>T | GRCh37 |
| NC_000011.8:g.32395700C>T | NCBI36 |
| NG_009272.1:g.22964G>A , LRG_525:g.22964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.964G>A | ENSP00000331327.5:p.Gly322Ser | |
| ENST00000379077.9:c.964G>A | ENSP00000368368.5:p.Gly322Arg | |
| ENST00000379079.8:c.313G>A | ENSP00000368370.2:p.Gly105Arg | |
| ENST00000448076.9:c.964G>A | ENSP00000413452.5:p.Gly322Arg | |
| ENST00000452863.10:c.964G>A MANE Select | ENSP00000415516.5:p.Gly322Arg | |
| ENST00000639563.3:c.964G>A | ENSP00000492269.3:p.Gly322Ser | |
| ENST00000640146.2:c.340G>A | ENSP00000491984.2:p.Gly114Ser | |
| ENST00000332351.7:c.949G>A | ENSP00000331327.3:p.Gly317Arg | |
| ENST00000379077.7:c.949G>A | ENSP00000368368.3:p.Gly317Arg | |
| ENST00000379079.6:c.313G>A | ENSP00000368370.2:p.Gly105Arg | |
| ENST00000448076.7:c.949G>A | ENSP00000413452.3:p.Gly317Arg | |
| ENST00000452863.7:c.949G>A | ENSP00000415516.3:p.Gly317Ser | |
| ENST00000527775.1:c.202G>A | ENSP00000435351.1:p.Gly68Arg | |
| ENST00000527882.5:c.20G>A | ||
| ENST00000530998.5:c.313G>A | ENSP00000435307.1:p.Gly105Ser | |
| NM_000378.4:c.949G>A | NP_000369.3:p.Gly317Ser | |
| NM_001198551.1:c.313G>A , LRG_525t2:c.313G>A | NP_001185480.1:p.Gly105Arg | |
| NM_001198552.1:c.313G>A | NP_001185481.1:p.Gly105Ser | |
| NM_024424.3:c.949G>A | NP_077742.2:p.Gly317Arg | |
| NM_024426.4:c.949G>A | NP_077744.3:p.Gly317Arg | |
| NM_000378.5:c.964G>A | NP_000369.4:p.Gly322Ser | |
| NM_024424.4:c.964G>A | NP_077742.3:p.Gly322Arg | |
| NM_024426.5:c.964G>A | NP_077744.4:p.Gly322Arg | |
| NR_160306.1:n.1143G>A | ||
| NM_000378.6:c.964G>A | NP_000369.4:p.Gly322Ser | |
| NM_001198552.2:c.313G>A | NP_001185481.1:p.Gly105Ser | |
| NM_024424.5:c.964G>A | NP_077742.3:p.Gly322Arg | |
| NM_024426.6:c.964G>A MANE Select | NP_077744.4:p.Gly322Arg |