Linked Data
ClinVar Variation Id:
1502043
ClinVar RCV Id:
RCV002045081
dbSNP Id:
rs1981326958
gnomAD v3:
17-8121627-C-G
gnomAD v4:
17-8121627-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121627C>G , CM000679.2:g.8121627C>G | GRCh38 |
| NC_000017.10:g.8024945C>G , CM000679.1:g.8024945C>G | GRCh37 |
| NC_000017.9:g.7965670C>G | NCBI36 |
| NG_015807.1:g.2290G>C | |
| NG_015816.1:g.7466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.637G>C MANE Select | ENSP00000446205.2:p.Gly213Arg | |
| ENST00000317814.8:c.622G>C | ENSP00000314774.4:p.Gly208Arg | |
| ENST00000541682.6:c.637G>C | ENSP00000446205.2:p.Gly213Arg | |
| NM_001165967.1:c.637G>C | NP_001159439.1:p.Gly213Arg | |
| NM_032580.3:c.622G>C | NP_115969.2:p.Gly208Arg | |
| XM_011524038.1:c.742G>C | XP_011522340.1:p.Gly248Arg | |
| XM_011524039.1:c.733G>C | XP_011522341.1:p.Gly245Arg | |
| XM_011524040.1:c.733G>C | XP_011522342.1:p.Gly245Arg | |
| XM_011524041.1:c.724G>C | XP_011522343.1:p.Gly242Arg | |
| XM_011524042.1:c.595G>C | XP_011522344.1:p.Gly199Arg | |
| XR_934203.1:n.69+1813C>G | ||
| XM_017025232.1:c.742G>C | XP_016880721.1:p.Gly248Arg | |
| XM_024451007.1:c.742G>C | XP_024306775.1:p.Gly248Arg | |
| NM_001165967.2:c.637G>C MANE Select | NP_001159439.1:p.Gly213Arg | |
| NM_032580.4:c.622G>C | NP_115969.2:p.Gly208Arg |