Linked Data
ClinVar Variation Id:
142535
dbSNP Id:
rs148064985
ExAC:
11:108178702 G / C
gnomAD v2:
11-108178702-G-C
gnomAD v3:
11-108307975-G-C
gnomAD v4:
11-108307975-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108307975G>C , CM000673.2:g.108307975G>C | GRCh38 |
| NC_000011.9:g.108178702G>C , CM000673.1:g.108178702G>C | GRCh37 |
| NC_000011.8:g.107683912G>C | NCBI36 |
| NG_009830.1:g.90144G>C , LRG_135:g.90144G>C | |
| NG_054724.1:g.166858C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5753G>C | ENSP00000388058.2:p.Arg1918Thr | |
| ENST00000713593.1:c.*5224G>C | ENSP00000518889.1:n.*5224G>C | |
| ENST00000278616.9:c.5753G>C | ENSP00000278616.4:p.Arg1918Thr | |
| ENST00000525056.2:n.172G>C | ||
| ENST00000682286.1:n.510G>C | ||
| ENST00000682302.1:n.171G>C | ||
| ENST00000683174.1:n.7237G>C | ||
| ENST00000683524.1:n.977G>C | ||
| ENST00000684152.1:n.1467G>C | ||
| ENST00000527805.6:c.*817G>C | ENSP00000435747.2:n.*817G>C | |
| ENST00000675595.1:c.*817G>C | ENSP00000502563.1:n.*817G>C | |
| ENST00000675843.1:c.5753G>C MANE Select | ENSP00000501606.1:p.Arg1918Thr | |
| ENST00000278616.8:c.5753G>C | ENSP00000278616.4:p.Arg1918Thr | |
| ENST00000452508.6:c.5753G>C | ENSP00000388058.2:p.Arg1918Thr | |
| ENST00000524792.5:n.1968G>C | ||
| ENST00000529588.5:c.187-2185G>C | ||
| ENST00000533690.5:n.1157G>C | ||
| NM_000051.3:c.5753G>C , LRG_135t1:c.5753G>C | NP_000042.3:p.Arg1918Thr | |
| XM_005271561.3:c.5753G>C | XP_005271618.2:p.Arg1918Thr | |
| XM_005271562.3:c.5753G>C | XP_005271619.2:p.Arg1918Thr | |
| XM_006718843.2:c.5753G>C | XP_006718906.1:p.Arg1918Thr | |
| XM_006718845.1:c.1709G>C | XP_006718908.1:p.Arg570Thr | |
| XM_011542840.1:c.5753G>C | XP_011541142.1:p.Arg1918Thr | |
| XM_011542841.1:c.5753G>C | XP_011541143.1:p.Arg1918Thr | |
| XM_011542842.1:c.5588G>C | XP_011541144.1:p.Arg1863Thr | |
| XM_011542843.1:c.5753G>C | XP_011541145.1:p.Arg1918Thr | |
| XM_011542844.1:c.4709G>C | XP_011541146.1:p.Arg1570Thr | |
| XM_011542845.1:c.4445G>C | XP_011541147.1:p.Arg1482Thr | |
| XM_011542847.1:c.824G>C | XP_011541149.1:p.Arg275Thr | |
| NM_001351834.1:c.5753G>C | NP_001338763.1:p.Arg1918Thr | |
| XM_005271562.5:c.5753G>C | XP_005271619.2:p.Arg1918Thr | |
| XM_006718843.4:c.5753G>C | XP_006718906.1:p.Arg1918Thr | |
| XM_006718845.2:c.1709G>C | XP_006718908.1:p.Arg570Thr | |
| XM_011542840.3:c.5753G>C | XP_011541142.1:p.Arg1918Thr | |
| XM_011542842.3:c.5588G>C | XP_011541144.1:p.Arg1863Thr | |
| XM_011542843.2:c.5753G>C | XP_011541145.1:p.Arg1918Thr | |
| XM_011542844.3:c.4709G>C | XP_011541146.1:p.Arg1570Thr | |
| XM_011542845.2:c.4445G>C | XP_011541147.1:p.Arg1482Thr | |
| XM_017017789.2:c.5753G>C | XP_016873278.1:p.Arg1918Thr | |
| XM_017017790.2:c.5753G>C | XP_016873279.1:p.Arg1918Thr | |
| XM_017017791.1:c.5753G>C | XP_016873280.1:p.Arg1918Thr | |
| XR_002957150.1:n.6353G>C | ||
| NM_001351834.2:c.5753G>C | NP_001338763.1:p.Arg1918Thr | |
| NM_000051.4:c.5753G>C MANE Select | NP_000042.3:p.Arg1918Thr |