Linked Data
ClinVar Variation Id:
463983
ClinVar RCV Id:
RCV000557854
dbSNP Id:
rs1442794209
gnomAD v2:
21-36164475-G-T
gnomAD v4:
21-34792178-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792178G>T , CM000683.2:g.34792178G>T | GRCh38 |
| NC_000021.8:g.36164475G>T , CM000683.1:g.36164475G>T | GRCh37 |
| NC_000021.7:g.35086345G>T | NCBI36 |
| NG_011402.2:g.1197534C>A , LRG_482:g.1197534C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1400C>A MANE Select | ENSP00000501943.1:p.Ala467Glu | |
| ENST00000300305.7:c.1400C>A | ENSP00000300305.3:p.Ala467Glu | |
| ENST00000344691.8:c.1319C>A | ENSP00000340690.4:p.Ala440Glu | |
| ENST00000399240.5:c.1127C>A | ENSP00000382184.1:p.Ala376Glu | |
| ENST00000437180.5:c.1400C>A | ENSP00000409227.1:p.Ala467Glu | |
| ENST00000482318.5:c.*990C>A | ENSP00000477067.1:n.*990C>A | |
| NM_001001890.2:c.1319C>A | NP_001001890.1:p.Ala440Glu | |
| NM_001754.4:c.1400C>A , LRG_482t1:c.1400C>A | NP_001745.2:p.Ala467Glu | |
| XM_005261068.3:c.1364C>A | XP_005261125.1:p.Ala455Glu | |
| XM_005261069.3:c.1208C>A | XP_005261126.1:p.Ala403Glu | |
| XM_011529766.1:c.1400C>A | XP_011528068.1:p.Ala467Glu | |
| XM_011529767.1:c.1361C>A | XP_011528069.1:p.Ala454Glu | |
| XM_011529768.1:c.1169C>A | XP_011528070.1:p.Ala390Glu | |
| XM_005261069.4:c.1208C>A | XP_005261126.1:p.Ala403Glu | |
| XM_011529766.2:c.1400C>A | XP_011528068.1:p.Ala467Glu | |
| XM_011529767.2:c.1361C>A | XP_011528069.1:p.Ala454Glu | |
| XM_011529768.2:c.1169C>A | XP_011528070.1:p.Ala390Glu | |
| XM_017028487.1:c.1247C>A | XP_016883976.1:p.Ala416Glu | |
| NM_001001890.3:c.1319C>A | NP_001001890.1:p.Ala440Glu | |
| NM_001754.5:c.1400C>A MANE Select | NP_001745.2:p.Ala467Glu |