Linked Data
ClinVar Variation Id:
1679776
dbSNP Id:
rs140529566
ExAC:
11:118373239 G / A
gnomAD v2:
11-118373239-G-A
gnomAD v3:
11-118502524-G-A
gnomAD v4:
11-118502524-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118502524G>A , CM000673.2:g.118502524G>A | GRCh38 |
| NC_000011.9:g.118373239G>A , CM000673.1:g.118373239G>A | GRCh37 |
| NC_000011.8:g.117878449G>A | NCBI36 |
| NG_027813.1:g.71035G>A , LRG_613:g.71035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.6731G>A | ENSP00000432391.3:p.Arg2244Gln | |
| ENST00000710560.1:c.6722G>A | ENSP00000518343.1:p.Arg2241Gln | |
| ENST00000649878.2:c.671G>A | ENSP00000497891.2:p.Arg224Gln | |
| ENST00000685397.1:c.671G>A | ENSP00000509586.1:p.Arg224Gln | |
| ENST00000686370.1:c.671G>A | ENSP00000509179.1:p.Arg224Gln | |
| ENST00000689424.1:c.929G>A | ENSP00000509852.1:p.Arg310Gln | |
| ENST00000691053.1:c.6704G>A | ENSP00000509168.1:p.Arg2235Gln | |
| ENST00000389506.10:c.6623G>A | ENSP00000374157.5:p.Arg2208Gln | |
| ENST00000528278.2:n.5974G>A | ||
| ENST00000534358.8:c.6632G>A MANE Select | ENSP00000436786.2:p.Arg2211Gln | |
| ENST00000649699.1:c.6509G>A | ENSP00000496927.1:p.Arg2170Gln | |
| ENST00000389506.9:c.6623G>A | ENSP00000374157.5:p.Arg2208Gln | |
| ENST00000528278.1:n.759G>A | ||
| ENST00000534358.5:c.6632G>A | ENSP00000436786.1:p.Arg2211Gln | |
| NM_001197104.1:c.6632G>A , LRG_613t1:c.6632G>A | NP_001184033.1:p.Arg2211Gln | |
| NM_005933.3:c.6623G>A | NP_005924.2:p.Arg2208Gln | |
| XM_006718839.2:c.4115G>A | XP_006718902.2:p.Arg1372Gln | |
| XM_011542829.1:c.6731G>A | XP_011541131.1:p.Arg2244Gln | |
| XM_011542830.1:c.6728G>A | XP_011541132.1:p.Arg2243Gln | |
| XM_011542831.1:c.6722G>A | XP_011541133.1:p.Arg2241Gln | |
| XM_011542832.1:c.4538G>A | XP_011541134.1:p.Arg1513Gln | |
| XM_011542833.1:c.4214G>A | XP_011541135.1:p.Arg1405Gln | |
| XM_006718839.3:c.4115G>A | XP_006718902.2:p.Arg1372Gln | |
| XM_011542829.2:c.6731G>A | XP_011541131.1:p.Arg2244Gln | |
| XM_011542830.2:c.6728G>A | XP_011541132.1:p.Arg2243Gln | |
| XM_011542831.2:c.6722G>A | XP_011541133.1:p.Arg2241Gln | |
| XM_011542833.2:c.4214G>A | XP_011541135.1:p.Arg1405Gln | |
| NM_001197104.2:c.6632G>A MANE Select | NP_001184033.1:p.Arg2211Gln | |
| NM_005933.4:c.6623G>A | NP_005924.2:p.Arg2208Gln |