Linked Data
ClinVar Variation Id:
463997
dbSNP Id:
rs752586117
ExAC:
21:36231832 C / A
gnomAD v2:
21-36231832-C-A
gnomAD v3:
21-34859535-C-A
gnomAD v4:
21-34859535-C-A
COSMIC:
COSM24725
ERepo:
CA10014477/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34859535C>A , CM000683.2:g.34859535C>A | GRCh38 |
| NC_000021.8:g.36231832C>A , CM000683.1:g.36231832C>A | GRCh37 |
| NC_000021.7:g.35153702C>A | NCBI36 |
| NG_011402.2:g.1130177G>T , LRG_482:g.1130177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.552G>T MANE Select | ENSP00000501943.1:p.Pro184= | |
| ENST00000300305.7:c.552G>T | ENSP00000300305.3:p.Pro184= | |
| ENST00000344691.8:c.471G>T | ENSP00000340690.4:p.Pro157= | |
| ENST00000358356.9:c.471G>T | ENSP00000351123.5:p.Pro157= | |
| ENST00000399237.6:c.516G>T | ENSP00000382182.2:p.Pro172= | |
| ENST00000399240.5:c.471G>T | ENSP00000382184.1:p.Pro157= | |
| ENST00000437180.5:c.552G>T | ENSP00000409227.1:p.Pro184= | |
| ENST00000467577.1:n.44G>T | ||
| ENST00000482318.5:c.*142G>T | ENSP00000477067.1:n.*142G>T | |
| NM_001001890.2:c.471G>T | NP_001001890.1:p.Pro157= | |
| NM_001122607.1:c.471G>T | NP_001116079.1:p.Pro157= | |
| NM_001754.4:c.552G>T , LRG_482t1:c.552G>T | NP_001745.2:p.Pro184= | |
| XM_005261068.3:c.516G>T | XP_005261125.1:p.Pro172= | |
| XM_005261069.3:c.552G>T | XP_005261126.1:p.Pro184= | |
| XM_011529766.1:c.552G>T | XP_011528068.1:p.Pro184= | |
| XM_011529767.1:c.513G>T | XP_011528069.1:p.Pro171= | |
| XM_011529768.1:c.513G>T | XP_011528070.1:p.Pro171= | |
| XM_011529770.1:c.552G>T | XP_011528072.1:p.Pro184= | |
| XR_937576.1:n.731G>T | ||
| XM_005261069.4:c.552G>T | XP_005261126.1:p.Pro184= | |
| XM_011529766.2:c.552G>T | XP_011528068.1:p.Pro184= | |
| XM_011529767.2:c.513G>T | XP_011528069.1:p.Pro171= | |
| XM_011529768.2:c.513G>T | XP_011528070.1:p.Pro171= | |
| XM_011529770.2:c.552G>T | XP_011528072.1:p.Pro184= | |
| XM_017028487.1:c.399G>T | XP_016883976.1:p.Pro133= | |
| XR_937576.2:n.778G>T | ||
| NM_001001890.3:c.471G>T | NP_001001890.1:p.Pro157= | |
| NM_001122607.2:c.471G>T | NP_001116079.1:p.Pro157= | |
| NM_001754.5:c.552G>T MANE Select | NP_001745.2:p.Pro184= |