Linked Data
ClinVar Variation Id:
463990
dbSNP Id:
rs777168865
ExAC:
21:36259286 C / G
gnomAD v2:
21-36259286-C-G
gnomAD v3:
21-34886989-C-G
gnomAD v4:
21-34886989-C-G
COSMIC:
COSM24727
ERepo:
CA10014569/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886989C>G , CM000683.2:g.34886989C>G | GRCh38 |
| NC_000021.8:g.36259286C>G , CM000683.1:g.36259286C>G | GRCh37 |
| NC_000021.7:g.35181156C>G | NCBI36 |
| NG_011402.2:g.1102723G>C , LRG_482:g.1102723G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.205G>C MANE Select | ENSP00000501943.1:p.Gly69Arg | |
| ENST00000300305.7:c.205G>C | ENSP00000300305.3:p.Gly69Arg | |
| ENST00000344691.8:c.124G>C | ENSP00000340690.4:p.Gly42Arg | |
| ENST00000358356.9:c.124G>C | ENSP00000351123.5:p.Gly42Arg | |
| ENST00000399237.6:c.169G>C | ENSP00000382182.2:p.Gly57Arg | |
| ENST00000399240.5:c.124G>C | ENSP00000382184.1:p.Gly42Arg | |
| ENST00000437180.5:c.205G>C | ENSP00000409227.1:p.Gly69Arg | |
| ENST00000455571.5:c.166G>C | ENSP00000388189.1:p.Gly56Arg | |
| ENST00000482318.5:c.59-6276G>C | ENSP00000477067.1:n.59-6276G>C | |
| NM_001001890.2:c.124G>C | NP_001001890.1:p.Gly42Arg | |
| NM_001122607.1:c.124G>C | NP_001116079.1:p.Gly42Arg | |
| NM_001754.4:c.205G>C , LRG_482t1:c.205G>C | NP_001745.2:p.Gly69Arg | |
| XM_005261068.3:c.169G>C | XP_005261125.1:p.Gly57Arg | |
| XM_005261069.3:c.205G>C | XP_005261126.1:p.Gly69Arg | |
| XM_011529766.1:c.205G>C | XP_011528068.1:p.Gly69Arg | |
| XM_011529767.1:c.166G>C | XP_011528069.1:p.Gly56Arg | |
| XM_011529768.1:c.166G>C | XP_011528070.1:p.Gly56Arg | |
| XM_011529770.1:c.205G>C | XP_011528072.1:p.Gly69Arg | |
| XR_937576.1:n.384G>C | ||
| XM_005261069.4:c.205G>C | XP_005261126.1:p.Gly69Arg | |
| XM_011529766.2:c.205G>C | XP_011528068.1:p.Gly69Arg | |
| XM_011529767.2:c.166G>C | XP_011528069.1:p.Gly56Arg | |
| XM_011529768.2:c.166G>C | XP_011528070.1:p.Gly56Arg | |
| XM_011529770.2:c.205G>C | XP_011528072.1:p.Gly69Arg | |
| XM_017028487.1:c.52G>C | XP_016883976.1:p.Gly18Arg | |
| XR_937576.2:n.431G>C | ||
| NM_001001890.3:c.124G>C | NP_001001890.1:p.Gly42Arg | |
| NM_001122607.2:c.124G>C | NP_001116079.1:p.Gly42Arg | |
| NM_001754.5:c.205G>C MANE Select | NP_001745.2:p.Gly69Arg |