Linked Data
ClinVar Variation Id:
497235
dbSNP Id:
rs868221979
gnomAD v3:
11-22272879-G-T
gnomAD v4:
11-22272879-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272879G>T , CM000673.2:g.22272879G>T | GRCh38 |
| NC_000011.9:g.22294425G>T , CM000673.1:g.22294425G>T | GRCh37 |
| NC_000011.8:g.22251001G>T | NCBI36 |
| NG_015844.1:g.84704G>T , LRG_868:g.84704G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.142G>T | ||
| ENST00000682266.1:c.1675G>T | ENSP00000507766.1:p.Ala559Ser | |
| ENST00000682341.1:c.2083G>T | ENSP00000508251.1:p.Ala695Ser | |
| ENST00000683197.1:c.2083G>T | ENSP00000507641.1:p.Ala695Ser | |
| ENST00000683411.1:c.1675G>T | ENSP00000508397.1:p.Ala559Ser | |
| ENST00000683437.1:c.1675G>T | ENSP00000508408.1:p.Ala559Ser | |
| ENST00000683613.1:n.3119G>T | ||
| ENST00000684663.1:c.2080G>T | ENSP00000508009.1:p.Ala694Ser | |
| ENST00000324559.9:c.2125G>T MANE Select | ENSP00000315371.9:p.Ala709Ser | |
| ENST00000648804.1:n.2460G>T | ||
| ENST00000324559.8:c.2125G>T | ENSP00000315371.8:p.Ala709Ser | |
| ENST00000532043.1:n.142G>T | ||
| NM_001142649.1:c.2122G>T | NP_001136121.1:p.Ala708Ser | |
| NM_213599.2:c.2125G>T , LRG_868t1:c.2125G>T | NP_998764.1:p.Ala709Ser | |
| XM_005252820.2:c.2083G>T | XP_005252877.2:p.Ala695Ser | |
| XM_005252821.2:c.2080G>T | XP_005252878.2:p.Ala694Ser | |
| XM_005252822.3:c.2047G>T | XP_005252879.1:p.Ala683Ser | |
| XM_005252823.3:c.2044G>T | XP_005252880.1:p.Ala682Ser | |
| XM_011519949.1:c.2032G>T | XP_011518251.1:p.Ala678Ser | |
| XM_005252820.3:c.2083G>T | XP_005252877.2:p.Ala695Ser | |
| XM_005252821.3:c.2080G>T | XP_005252878.2:p.Ala694Ser | |
| XM_005252822.4:c.2047G>T | XP_005252879.1:p.Ala683Ser | |
| XM_011519949.2:c.2032G>T | XP_011518251.1:p.Ala678Ser | |
| NM_001142649.2:c.2122G>T | NP_001136121.1:p.Ala708Ser | |
| NM_213599.3:c.2125G>T MANE Select | NP_998764.1:p.Ala709Ser |