Linked Data
ClinVar Variation Id:
67036
ClinVar RCV Id:
RCV000057593
RCV000148557
RCV000505803
RCV001824592
RCV001841668
RCV002483092
RCV003162436
dbSNP Id:
rs145974930
ExAC:
11:2790112 G / A
gnomAD v2:
11-2790112-G-A
gnomAD v3:
11-2768882-G-A
gnomAD v4:
11-2768882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768882G>A , CM000673.2:g.2768882G>A | GRCh38 |
| NC_000011.9:g.2790112G>A , CM000673.1:g.2790112G>A | GRCh37 |
| NC_000011.8:g.2746688G>A | NCBI36 |
| NG_008935.1:g.328892G>A , LRG_287:g.328892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1196G>A | ENSP00000434560.2:p.Arg399Gln | |
| ENST00000646564.2:c.1013G>A | ENSP00000495806.2:p.Arg338Gln | |
| ENST00000155840.12:c.1553G>A MANE Select | ENSP00000155840.2:p.Arg518Gln | |
| ENST00000335475.6:c.1172G>A | ENSP00000334497.5:p.Arg391Gln | |
| ENST00000646564.1:c.659G>A | ENSP00000495806.1:p.Arg220Gln | |
| ENST00000155840.9:c.1553G>A | ENSP00000155840.2:p.Arg518Gln | |
| ENST00000335475.5:c.1172G>A | ENSP00000334497.5:p.Arg391Gln | |
| NM_000218.2:c.1553G>A , LRG_287t1:c.1553G>A | NP_000209.2:p.Arg518Gln | |
| NM_181798.1:c.1172G>A , LRG_287t2:c.1172G>A | NP_861463.1:p.Arg391Gln | |
| NM_000218.3:c.1553G>A MANE Select | NP_000209.2:p.Arg518Gln |