Linked Data
ClinVar Variation Id:
195004
dbSNP Id:
rs200631556
ExAC:
11:22294441 C / G
gnomAD v2:
11-22294441-C-G
gnomAD v3:
11-22272895-C-G
gnomAD v4:
11-22272895-C-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272895C>G , CM000673.2:g.22272895C>G | GRCh38 |
| NC_000011.9:g.22294441C>G , CM000673.1:g.22294441C>G | GRCh37 |
| NC_000011.8:g.22251017C>G | NCBI36 |
| NG_015844.1:g.84720C>G , LRG_868:g.84720C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.158C>G | ||
| ENST00000682266.1:c.1691C>G | ENSP00000507766.1:p.Thr564Ser | |
| ENST00000682341.1:c.2099C>G | ENSP00000508251.1:p.Thr700Ser | |
| ENST00000683197.1:c.2099C>G | ENSP00000507641.1:p.Thr700Ser | |
| ENST00000683411.1:c.1691C>G | ENSP00000508397.1:p.Thr564Ser | |
| ENST00000683437.1:c.1691C>G | ENSP00000508408.1:p.Thr564Ser | |
| ENST00000683613.1:n.3135C>G | ||
| ENST00000684663.1:c.2096C>G | ENSP00000508009.1:p.Thr699Ser | |
| ENST00000324559.9:c.2141C>G MANE Select | ENSP00000315371.9:p.Thr714Ser | |
| ENST00000648804.1:n.2476C>G | ||
| ENST00000324559.8:c.2141C>G | ENSP00000315371.8:p.Thr714Ser | |
| ENST00000532043.1:n.158C>G | ||
| NM_001142649.1:c.2138C>G | NP_001136121.1:p.Thr713Ser | |
| NM_213599.2:c.2141C>G , LRG_868t1:c.2141C>G | NP_998764.1:p.Thr714Ser | |
| XM_005252820.2:c.2099C>G | XP_005252877.2:p.Thr700Ser | |
| XM_005252821.2:c.2096C>G | XP_005252878.2:p.Thr699Ser | |
| XM_005252822.3:c.2063C>G | XP_005252879.1:p.Thr688Ser | |
| XM_005252823.3:c.2060C>G | XP_005252880.1:p.Thr687Ser | |
| XM_011519949.1:c.2048C>G | XP_011518251.1:p.Thr683Ser | |
| XM_005252820.3:c.2099C>G | XP_005252877.2:p.Thr700Ser | |
| XM_005252821.3:c.2096C>G | XP_005252878.2:p.Thr699Ser | |
| XM_005252822.4:c.2063C>G | XP_005252879.1:p.Thr688Ser | |
| XM_011519949.2:c.2048C>G | XP_011518251.1:p.Thr683Ser | |
| NM_001142649.2:c.2138C>G | NP_001136121.1:p.Thr713Ser | |
| NM_213599.3:c.2141C>G MANE Select | NP_998764.1:p.Thr714Ser |