Linked Data
ClinVar Variation Id:
1810247
dbSNP Id:
rs267607257
gnomAD v4:
2-27312589-C-G
PubMed:
PMID:22593919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312589C>G , CM000664.2:g.27312589C>G | GRCh38 |
| NC_000002.11:g.27535456C>G , CM000664.1:g.27535456C>G | GRCh37 |
| NC_000002.10:g.27388960C>G | NCBI36 |
| NG_008075.1:g.14976G>C | |
| NG_033055.1:g.675G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.280G>C MANE Select | ENSP00000369383.1:p.Gly94Arg | |
| ENST00000233545.6:c.280G>C | ENSP00000233545.2:p.Gly94Arg | |
| ENST00000357186.10:c.112G>C | ENSP00000349713.6:p.Gly38Arg | |
| ENST00000380044.5:c.280G>C | ENSP00000369383.1:p.Gly94Arg | |
| ENST00000402310.5:c.280G>C | ENSP00000383955.1:p.Gly94Arg | |
| ENST00000402722.5:c.245G>C | ENSP00000386000.1:p.Gly82Ala | |
| ENST00000403262.6:c.280G>C | ENSP00000385671.1:p.Gly94Arg | |
| ENST00000405076.5:c.187-343G>C | ENSP00000385175.1:n.187-343G>C | |
| ENST00000405983.5:c.325G>C | ENSP00000384586.1:p.Gly109Arg | |
| ENST00000415514.5:c.*81G>C | ENSP00000388043.1:n.*81G>C | |
| ENST00000426513.6:c.245G>C | ENSP00000403824.2:p.Gly82Ala | |
| ENST00000428910.5:c.202G>C | ENSP00000405235.1:p.Gly68Arg | |
| ENST00000430991.5:c.209+91G>C | ||
| ENST00000475085.1:n.308G>C | ||
| ENST00000616446.1:n.257G>C | ||
| ENST00000616707.1:n.799G>C | ||
| ENST00000617583.4:n.306G>C | ||
| ENST00000621183.4:n.336G>C | ||
| ENST00000621470.4:n.296G>C | ||
| ENST00000622003.4:n.453G>C | ||
| NM_002437.4:c.280G>C | NP_002428.1:p.Gly94Arg | |
| XM_005264326.2:c.280G>C | XP_005264383.1:p.Gly94Arg | |
| XM_005264327.2:c.121G>C | XP_005264384.1:p.Gly41Arg | |
| XM_006712021.2:c.232G>C | XP_006712084.1:p.Gly78Arg | |
| XM_005264326.4:c.280G>C | XP_005264383.1:p.Gly94Arg | |
| XM_006712021.3:c.232G>C | XP_006712084.1:p.Gly78Arg | |
| XM_017004150.1:c.262G>C | XP_016859639.1:p.Gly88Arg | |
| XM_017004151.1:c.232G>C | XP_016859640.1:p.Gly78Arg | |
| XM_017004152.1:c.121G>C | XP_016859641.1:p.Gly41Arg | |
| XM_024452913.1:c.232G>C | XP_024308681.1:p.Gly78Arg | |
| NM_002437.5:c.280G>C MANE Select | NP_002428.1:p.Gly94Arg |