Linked Data
ClinVar Variation Id:
290281
ClinVar RCV Id:
RCV000293643
dbSNP Id:
rs145127621
ExAC:
11:22297671 G / A
gnomAD v2:
11-22297671-G-A
gnomAD v3:
11-22276125-G-A
gnomAD v4:
11-22276125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22276125G>A , CM000673.2:g.22276125G>A | GRCh38 |
| NC_000011.9:g.22297671G>A , CM000673.1:g.22297671G>A | GRCh37 |
| NC_000011.8:g.22254247G>A | NCBI36 |
| NG_015844.1:g.87950G>A , LRG_868:g.87950G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.463G>A | ||
| ENST00000682266.1:c.1996G>A | ENSP00000507766.1:p.Glu666Lys | |
| ENST00000682341.1:c.2404G>A | ENSP00000508251.1:p.Glu802Lys | |
| ENST00000683197.1:c.2372+1378G>A | ENSP00000507641.1:n.2372+1378G>A | |
| ENST00000683411.1:c.1996G>A | ENSP00000508397.1:p.Glu666Lys | |
| ENST00000683437.1:c.1996G>A | ENSP00000508408.1:p.Glu666Lys | |
| ENST00000683613.1:n.3440G>A | ||
| ENST00000684663.1:c.2401G>A | ENSP00000508009.1:p.Glu801Lys | |
| ENST00000324559.9:c.2446G>A MANE Select | ENSP00000315371.9:p.Glu816Lys | |
| ENST00000648804.1:n.2781G>A | ||
| ENST00000324559.8:c.2446G>A | ENSP00000315371.8:p.Glu816Lys | |
| ENST00000532043.1:n.463G>A | ||
| NM_001142649.1:c.2443G>A | NP_001136121.1:p.Glu815Lys | |
| NM_213599.2:c.2446G>A , LRG_868t1:c.2446G>A | NP_998764.1:p.Glu816Lys | |
| XM_005252820.2:c.2404G>A | XP_005252877.2:p.Glu802Lys | |
| XM_005252821.2:c.2401G>A | XP_005252878.2:p.Glu801Lys | |
| XM_005252822.3:c.2368G>A | XP_005252879.1:p.Glu790Lys | |
| XM_005252823.3:c.2365G>A | XP_005252880.1:p.Glu789Lys | |
| XM_011519949.1:c.2353G>A | XP_011518251.1:p.Glu785Lys | |
| XM_005252820.3:c.2404G>A | XP_005252877.2:p.Glu802Lys | |
| XM_005252821.3:c.2401G>A | XP_005252878.2:p.Glu801Lys | |
| XM_005252822.4:c.2368G>A | XP_005252879.1:p.Glu790Lys | |
| XM_011519949.2:c.2353G>A | XP_011518251.1:p.Glu785Lys | |
| NM_001142649.2:c.2443G>A | NP_001136121.1:p.Glu815Lys | |
| NM_213599.3:c.2446G>A MANE Select | NP_998764.1:p.Glu816Lys |