Linked Data
ClinVar Variation Id:
1469277
ClinVar RCV Id:
RCV001961491
dbSNP Id:
rs1417289245
gnomAD v4:
11-22211284-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22211284G>C , CM000673.2:g.22211284G>C | GRCh38 |
| NC_000011.9:g.22232830G>C , CM000673.1:g.22232830G>C | GRCh37 |
| NC_000011.8:g.22189406G>C | NCBI36 |
| NG_015844.1:g.23109G>C , LRG_868:g.23109G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682084.1:n.3282G>C | ||
| ENST00000682266.1:c.-301G>C | ENSP00000507766.1:n.-301G>C | |
| ENST00000682341.1:c.108G>C | ENSP00000508251.1:p.Glu36Asp | |
| ENST00000682530.1:c.105G>C | ENSP00000506805.1:p.Glu35Asp | |
| ENST00000682684.1:n.529G>C | ||
| ENST00000683197.1:c.108G>C | ENSP00000507641.1:p.Glu36Asp | |
| ENST00000683411.1:c.-362G>C | ENSP00000508397.1:n.-362G>C | |
| ENST00000683437.1:c.-270-9813G>C | ENSP00000508408.1:n.-270-9813G>C | |
| ENST00000683834.1:n.350G>C | ||
| ENST00000683897.1:n.394G>C | ||
| ENST00000684365.1:n.519G>C | ||
| ENST00000684663.1:c.105G>C | ENSP00000508009.1:p.Glu35Asp | |
| ENST00000324559.9:c.108G>C MANE Select | ENSP00000315371.9:p.Glu36Asp | |
| ENST00000648804.1:n.639G>C | ||
| ENST00000324559.8:c.108G>C | ENSP00000315371.8:p.Glu36Asp | |
| NM_001142649.1:c.105G>C | NP_001136121.1:p.Glu35Asp | |
| NM_213599.2:c.108G>C , LRG_868t1:c.108G>C | NP_998764.1:p.Glu36Asp | |
| XM_005252820.2:c.108G>C | XP_005252877.2:p.Glu36Asp | |
| XM_005252821.2:c.105G>C | XP_005252878.2:p.Glu35Asp | |
| XM_005252822.3:c.30G>C | XP_005252879.1:p.Glu10Asp | |
| XM_005252823.3:c.27G>C | XP_005252880.1:p.Glu9Asp | |
| XM_011519949.1:c.87+7434G>C | XP_011518251.1:n.87+7434G>C | |
| XM_005252820.3:c.108G>C | XP_005252877.2:p.Glu36Asp | |
| XM_005252821.3:c.105G>C | XP_005252878.2:p.Glu35Asp | |
| XM_005252822.4:c.30G>C | XP_005252879.1:p.Glu10Asp | |
| XM_011519949.2:c.87+7434G>C | XP_011518251.1:n.87+7434G>C | |
| NM_001142649.2:c.105G>C | NP_001136121.1:p.Glu35Asp | |
| NM_213599.3:c.108G>C MANE Select | NP_998764.1:p.Glu36Asp |