Linked Data
ClinVar Variation Id:
646000
ClinVar RCV Id:
RCV000800196
dbSNP Id:
rs1373002417
gnomAD v2:
11-22215069-G-A
gnomAD v3:
11-22193523-G-A
gnomAD v4:
11-22193523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22193523G>A , CM000673.2:g.22193523G>A | GRCh38 |
| NC_000011.9:g.22215069G>A , CM000673.1:g.22215069G>A | GRCh37 |
| NC_000011.8:g.22171645G>A | NCBI36 |
| NG_015844.1:g.5348G>A , LRG_868:g.5348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-331G>A | ENSP00000507766.1:n.-331G>A | |
| ENST00000682341.1:c.31G>A | ENSP00000508251.1:p.Ala11Thr | |
| ENST00000682530.1:c.31G>A | ENSP00000506805.1:p.Ala11Thr | |
| ENST00000682684.1:n.455G>A | ||
| ENST00000683197.1:c.31G>A | ENSP00000507641.1:p.Ala11Thr | |
| ENST00000683411.1:c.-392G>A | ENSP00000508397.1:n.-392G>A | |
| ENST00000683437.1:c.-280G>A | ENSP00000508408.1:n.-280G>A | |
| ENST00000683834.1:n.276G>A | ||
| ENST00000683897.1:n.317G>A | ||
| ENST00000684365.1:n.445G>A | ||
| ENST00000684663.1:c.31G>A | ENSP00000508009.1:p.Ala11Thr | |
| ENST00000324559.9:c.31G>A MANE Select | ENSP00000315371.9:p.Ala11Thr | |
| ENST00000648804.1:n.545-10281G>A | ||
| ENST00000324559.8:c.31G>A | ENSP00000315371.8:p.Ala11Thr | |
| NM_001142649.1:c.31G>A | NP_001136121.1:p.Ala11Thr | |
| NM_213599.2:c.31G>A , LRG_868t1:c.31G>A | NP_998764.1:p.Ala11Thr | |
| XM_005252820.2:c.31G>A | XP_005252877.2:p.Ala11Thr | |
| XM_005252821.2:c.31G>A | XP_005252878.2:p.Ala11Thr | |
| XM_005252822.3:c.-39+797G>A | XP_005252879.1:n.-39+797G>A | |
| XM_005252823.3:c.-39+797G>A | XP_005252880.1:n.-39+797G>A | |
| XM_011519949.1:c.31G>A | XP_011518251.1:p.Ala11Thr | |
| XM_005252820.3:c.31G>A | XP_005252877.2:p.Ala11Thr | |
| XM_005252821.3:c.31G>A | XP_005252878.2:p.Ala11Thr | |
| XM_005252822.4:c.-39+797G>A | XP_005252879.1:n.-39+797G>A | |
| XM_011519949.2:c.31G>A | XP_011518251.1:p.Ala11Thr | |
| NM_001142649.2:c.31G>A | NP_001136121.1:p.Ala11Thr | |
| NM_213599.3:c.31G>A MANE Select | NP_998764.1:p.Ala11Thr |