Linked Data
ClinVar Variation Id:
285552
ClinVar RCV Id:
RCV000380772
RCV000873224
RCV001079931
RCV001103647
RCV002259771
RCV002259772
RCV002259770
dbSNP Id:
rs144048656
ExAC:
11:22296135 G / A
gnomAD v2:
11-22296135-G-A
gnomAD v3:
11-22274589-G-A
gnomAD v4:
11-22274589-G-A
COSMIC:
COSM4032102
PubMed:
PMID:23606453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274589G>A , CM000673.2:g.22274589G>A | GRCh38 |
| NC_000011.9:g.22296135G>A , CM000673.1:g.22296135G>A | GRCh37 |
| NC_000011.8:g.22252711G>A | NCBI36 |
| NG_015844.1:g.86414G>A , LRG_868:g.86414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.273G>A | ||
| ENST00000682266.1:c.1806G>A | ENSP00000507766.1:p.Thr602= | |
| ENST00000682341.1:c.2214G>A | ENSP00000508251.1:p.Thr738= | |
| ENST00000683197.1:c.2214G>A | ENSP00000507641.1:p.Thr738= | |
| ENST00000683411.1:c.1806G>A | ENSP00000508397.1:p.Thr602= | |
| ENST00000683437.1:c.1806G>A | ENSP00000508408.1:p.Thr602= | |
| ENST00000683613.1:n.3250G>A | ||
| ENST00000684663.1:c.2211G>A | ENSP00000508009.1:p.Thr737= | |
| ENST00000324559.9:c.2256G>A MANE Select | ENSP00000315371.9:p.Thr752= | |
| ENST00000648804.1:n.2591G>A | ||
| ENST00000324559.8:c.2256G>A | ENSP00000315371.8:p.Thr752= | |
| ENST00000532043.1:n.273G>A | ||
| NM_001142649.1:c.2253G>A | NP_001136121.1:p.Thr751= | |
| NM_213599.2:c.2256G>A , LRG_868t1:c.2256G>A | NP_998764.1:p.Thr752= | |
| XM_005252820.2:c.2214G>A | XP_005252877.2:p.Thr738= | |
| XM_005252821.2:c.2211G>A | XP_005252878.2:p.Thr737= | |
| XM_005252822.3:c.2178G>A | XP_005252879.1:p.Thr726= | |
| XM_005252823.3:c.2175G>A | XP_005252880.1:p.Thr725= | |
| XM_011519949.1:c.2163G>A | XP_011518251.1:p.Thr721= | |
| XM_005252820.3:c.2214G>A | XP_005252877.2:p.Thr738= | |
| XM_005252821.3:c.2211G>A | XP_005252878.2:p.Thr737= | |
| XM_005252822.4:c.2178G>A | XP_005252879.1:p.Thr726= | |
| XM_011519949.2:c.2163G>A | XP_011518251.1:p.Thr721= | |
| NM_001142649.2:c.2253G>A | NP_001136121.1:p.Thr751= | |
| NM_213599.3:c.2256G>A MANE Select | NP_998764.1:p.Thr752= |