Linked Data
ClinVar Variation Id:
415831
dbSNP Id:
rs1060504667
gnomAD v4:
21-34792261-G-A
ERepo:
CA16616504/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792261G>A , CM000683.2:g.34792261G>A | GRCh38 |
| NC_000021.8:g.36164558G>A , CM000683.1:g.36164558G>A | GRCh37 |
| NC_000021.7:g.35086428G>A | NCBI36 |
| NG_011402.2:g.1197451C>T , LRG_482:g.1197451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1317C>T MANE Select | ENSP00000501943.1:p.Ser439= | |
| ENST00000300305.7:c.1317C>T | ENSP00000300305.3:p.Ser439= | |
| ENST00000344691.8:c.1236C>T | ENSP00000340690.4:p.Ser412= | |
| ENST00000399240.5:c.1044C>T | ENSP00000382184.1:p.Ser348= | |
| ENST00000437180.5:c.1317C>T | ENSP00000409227.1:p.Ser439= | |
| ENST00000482318.5:c.*907C>T | ENSP00000477067.1:n.*907C>T | |
| NM_001001890.2:c.1236C>T | NP_001001890.1:p.Ser412= | |
| NM_001754.4:c.1317C>T , LRG_482t1:c.1317C>T | NP_001745.2:p.Ser439= | |
| XM_005261068.3:c.1281C>T | XP_005261125.1:p.Ser427= | |
| XM_005261069.3:c.1125C>T | XP_005261126.1:p.Ser375= | |
| XM_011529766.1:c.1317C>T | XP_011528068.1:p.Ser439= | |
| XM_011529767.1:c.1278C>T | XP_011528069.1:p.Ser426= | |
| XM_011529768.1:c.1086C>T | XP_011528070.1:p.Ser362= | |
| XM_005261069.4:c.1125C>T | XP_005261126.1:p.Ser375= | |
| XM_011529766.2:c.1317C>T | XP_011528068.1:p.Ser439= | |
| XM_011529767.2:c.1278C>T | XP_011528069.1:p.Ser426= | |
| XM_011529768.2:c.1086C>T | XP_011528070.1:p.Ser362= | |
| XM_017028487.1:c.1164C>T | XP_016883976.1:p.Ser388= | |
| NM_001001890.3:c.1236C>T | NP_001001890.1:p.Ser412= | |
| NM_001754.5:c.1317C>T MANE Select | NP_001745.2:p.Ser439= |