Linked Data
ClinVar Variation Id:
304105
dbSNP Id:
rs767479331
ExAC:
11:22294439 C / T
gnomAD v2:
11-22294439-C-T
gnomAD v3:
11-22272893-C-T
gnomAD v4:
11-22272893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272893C>T , CM000673.2:g.22272893C>T | GRCh38 |
| NC_000011.9:g.22294439C>T , CM000673.1:g.22294439C>T | GRCh37 |
| NC_000011.8:g.22251015C>T | NCBI36 |
| NG_015844.1:g.84718C>T , LRG_868:g.84718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.156C>T | ||
| ENST00000682266.1:c.1689C>T | ENSP00000507766.1:p.Thr563= | |
| ENST00000682341.1:c.2097C>T | ENSP00000508251.1:p.Thr699= | |
| ENST00000683197.1:c.2097C>T | ENSP00000507641.1:p.Thr699= | |
| ENST00000683411.1:c.1689C>T | ENSP00000508397.1:p.Thr563= | |
| ENST00000683437.1:c.1689C>T | ENSP00000508408.1:p.Thr563= | |
| ENST00000683613.1:n.3133C>T | ||
| ENST00000684663.1:c.2094C>T | ENSP00000508009.1:p.Thr698= | |
| ENST00000324559.9:c.2139C>T MANE Select | ENSP00000315371.9:p.Thr713= | |
| ENST00000648804.1:n.2474C>T | ||
| ENST00000324559.8:c.2139C>T | ENSP00000315371.8:p.Thr713= | |
| ENST00000532043.1:n.156C>T | ||
| NM_001142649.1:c.2136C>T | NP_001136121.1:p.Thr712= | |
| NM_213599.2:c.2139C>T , LRG_868t1:c.2139C>T | NP_998764.1:p.Thr713= | |
| XM_005252820.2:c.2097C>T | XP_005252877.2:p.Thr699= | |
| XM_005252821.2:c.2094C>T | XP_005252878.2:p.Thr698= | |
| XM_005252822.3:c.2061C>T | XP_005252879.1:p.Thr687= | |
| XM_005252823.3:c.2058C>T | XP_005252880.1:p.Thr686= | |
| XM_011519949.1:c.2046C>T | XP_011518251.1:p.Thr682= | |
| XM_005252820.3:c.2097C>T | XP_005252877.2:p.Thr699= | |
| XM_005252821.3:c.2094C>T | XP_005252878.2:p.Thr698= | |
| XM_005252822.4:c.2061C>T | XP_005252879.1:p.Thr687= | |
| XM_011519949.2:c.2046C>T | XP_011518251.1:p.Thr682= | |
| NM_001142649.2:c.2136C>T | NP_001136121.1:p.Thr712= | |
| NM_213599.3:c.2139C>T MANE Select | NP_998764.1:p.Thr713= |