Linked Data
ClinVar Variation Id:
468828
ClinVar RCV Id:
RCV000527894
dbSNP Id:
rs1554924356
gnomAD v4:
11-22227350-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22227350G>T , CM000673.2:g.22227350G>T | GRCh38 |
| NC_000011.9:g.22248896G>T , CM000673.1:g.22248896G>T | GRCh37 |
| NC_000011.8:g.22205472G>T | NCBI36 |
| NG_015844.1:g.39175G>T , LRG_868:g.39175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-39G>T | ENSP00000507766.1:n.-39G>T | |
| ENST00000682341.1:c.370G>T | ENSP00000508251.1:p.Glu124Ter | |
| ENST00000682530.1:c.*344G>T | ENSP00000506805.1:n.*344G>T | |
| ENST00000682684.1:n.791G>T | ||
| ENST00000683197.1:c.370G>T | ENSP00000507641.1:p.Glu124Ter | |
| ENST00000683411.1:c.-39G>T | ENSP00000508397.1:n.-39G>T | |
| ENST00000683437.1:c.-39G>T | ENSP00000508408.1:n.-39G>T | |
| ENST00000683613.1:n.1406G>T | ||
| ENST00000683834.1:n.612G>T | ||
| ENST00000684663.1:c.367G>T | ENSP00000508009.1:p.Glu123Ter | |
| ENST00000324559.9:c.412G>T MANE Select | ENSP00000315371.9:p.Glu138Ter | |
| ENST00000648804.1:n.977G>T | ||
| ENST00000324559.8:c.412G>T | ENSP00000315371.8:p.Glu138Ter | |
| NM_001142649.1:c.409G>T | NP_001136121.1:p.Glu137Ter | |
| NM_213599.2:c.412G>T , LRG_868t1:c.412G>T | NP_998764.1:p.Glu138Ter | |
| XM_005252820.2:c.370G>T | XP_005252877.2:p.Glu124Ter | |
| XM_005252821.2:c.367G>T | XP_005252878.2:p.Glu123Ter | |
| XM_005252822.3:c.334G>T | XP_005252879.1:p.Glu112Ter | |
| XM_005252823.3:c.331G>T | XP_005252880.1:p.Glu111Ter | |
| XM_011519949.1:c.319G>T | XP_011518251.1:p.Glu107Ter | |
| XM_005252820.3:c.370G>T | XP_005252877.2:p.Glu124Ter | |
| XM_005252821.3:c.367G>T | XP_005252878.2:p.Glu123Ter | |
| XM_005252822.4:c.334G>T | XP_005252879.1:p.Glu112Ter | |
| XM_011519949.2:c.319G>T | XP_011518251.1:p.Glu107Ter | |
| NM_001142649.2:c.409G>T | NP_001136121.1:p.Glu137Ter | |
| NM_213599.3:c.412G>T MANE Select | NP_998764.1:p.Glu138Ter |