Linked Data
ClinVar Variation Id:
1015734
ClinVar RCV Id:
RCV001314639
dbSNP Id:
rs200104203
ExAC:
21:36164877 G / A
gnomAD v2:
21-36164877-G-A
gnomAD v3:
21-34792580-G-A
gnomAD v4:
21-34792580-G-A
ERepo:
CA10014224/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792580G>A , CM000683.2:g.34792580G>A | GRCh38 |
| NC_000021.8:g.36164877G>A , CM000683.1:g.36164877G>A | GRCh37 |
| NC_000021.7:g.35086747G>A | NCBI36 |
| NG_011402.2:g.1197132C>T , LRG_482:g.1197132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.998C>T MANE Select | ENSP00000501943.1:p.Pro333Leu | |
| ENST00000300305.7:c.998C>T | ENSP00000300305.3:p.Pro333Leu | |
| ENST00000344691.8:c.917C>T | ENSP00000340690.4:p.Pro306Leu | |
| ENST00000399240.5:c.725C>T | ENSP00000382184.1:p.Pro242Leu | |
| ENST00000437180.5:c.998C>T | ENSP00000409227.1:p.Pro333Leu | |
| ENST00000482318.5:c.*588C>T | ENSP00000477067.1:n.*588C>T | |
| NM_001001890.2:c.917C>T | NP_001001890.1:p.Pro306Leu | |
| NM_001754.4:c.998C>T , LRG_482t1:c.998C>T | NP_001745.2:p.Pro333Leu | |
| XM_005261068.3:c.962C>T | XP_005261125.1:p.Pro321Leu | |
| XM_005261069.3:c.806C>T | XP_005261126.1:p.Pro269Leu | |
| XM_011529766.1:c.998C>T | XP_011528068.1:p.Pro333Leu | |
| XM_011529767.1:c.959C>T | XP_011528069.1:p.Pro320Leu | |
| XM_011529768.1:c.767C>T | XP_011528070.1:p.Pro256Leu | |
| XR_937576.1:n.4602C>T | ||
| XM_005261069.4:c.806C>T | XP_005261126.1:p.Pro269Leu | |
| XM_011529766.2:c.998C>T | XP_011528068.1:p.Pro333Leu | |
| XM_011529767.2:c.959C>T | XP_011528069.1:p.Pro320Leu | |
| XM_011529768.2:c.767C>T | XP_011528070.1:p.Pro256Leu | |
| XM_017028487.1:c.845C>T | XP_016883976.1:p.Pro282Leu | |
| XR_937576.2:n.4649C>T | ||
| NM_001001890.3:c.917C>T | NP_001001890.1:p.Pro306Leu | |
| NM_001754.5:c.998C>T MANE Select | NP_001745.2:p.Pro333Leu |