Linked Data
ClinVar Variation Id:
520319
dbSNP Id:
rs148407539
ExAC:
10:69926350 G / A
gnomAD v2:
10-69926350-G-A
gnomAD v3:
10-68166593-G-A
gnomAD v4:
10-68166593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68166593G>A , CM000672.2:g.68166593G>A | GRCh38 |
| NC_000010.10:g.69926350G>A , CM000672.1:g.69926350G>A | GRCh37 |
| NC_000010.9:g.69596356G>A | NCBI36 |
| NG_032118.1:g.65477G>A , LRG_410:g.65477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.1075G>A | ENSP00000346369.2:p.Gly359Arg | |
| ENST00000373675.4:c.1900G>A | ENSP00000362779.4:p.Gly634Arg | |
| ENST00000540630.6:c.1954G>A | ENSP00000441668.3:p.Gly652Arg | |
| ENST00000613327.5:c.1900G>A | ENSP00000480757.2:p.Gly634Arg | |
| ENST00000687572.1:c.778G>A | ENSP00000510427.1:p.Gly260Arg | |
| ENST00000688812.1:c.1876G>A | ENSP00000510658.1:p.Gly626Arg | |
| ENST00000690544.1:c.*1171G>A | ENSP00000508989.1:n.*1171G>A | |
| ENST00000358913.10:c.1900G>A MANE Select | ENSP00000351790.5:p.Gly634Arg | |
| ENST00000354393.6:c.1075G>A | ENSP00000346369.2:p.Gly359Arg | |
| ENST00000358913.9:c.1900G>A | ENSP00000351790.5:p.Gly634Arg | |
| ENST00000540630.5:c.1900G>A | ENSP00000441668.2:p.Gly634Arg | |
| ENST00000613327.4:c.1018G>A | ENSP00000480757.1:p.Gly340Arg | |
| NM_001256267.1:c.1900G>A | NP_001243196.1:p.Gly634Arg | |
| NM_001256268.1:c.1018G>A | NP_001243197.1:p.Gly340Arg | |
| NM_032578.3:c.1900G>A , LRG_410t1:c.1900G>A | NP_115967.2:p.Gly634Arg | |
| NR_045662.3:n.1327G>A | ||
| NR_045663.3:n.2168G>A | ||
| XM_006718043.2:c.1954G>A | XP_006718106.1:p.Gly652Arg | |
| XM_011540292.1:c.1930G>A | XP_011538594.1:p.Gly644Arg | |
| XM_017016833.1:c.1978G>A | XP_016872322.1:p.Gly660Arg | |
| XM_017016834.2:c.1900G>A | XP_016872323.1:p.Gly634Arg | |
| XM_024448236.1:c.778G>A | XP_024304004.1:p.Gly260Arg | |
| NR_045662.4:n.1437G>A | ||
| NR_045663.4:n.2113G>A | ||
| NM_001256267.2:c.1900G>A | NP_001243196.1:p.Gly634Arg | |
| NM_001256268.2:c.1018G>A | NP_001243197.1:p.Gly340Arg | |
| NM_032578.4:c.1900G>A MANE Select | NP_115967.2:p.Gly634Arg |