Linked Data
ClinVar Variation Id:
377769
dbSNP Id:
rs1057520275
gnomAD v2:
2-220286255-G-A
gnomAD v3:
2-219421533-G-A
gnomAD v4:
2-219421533-G-A
COSMIC:
COSM4523492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421533G>A , CM000664.2:g.219421533G>A | GRCh38 |
| NC_000002.11:g.220286255G>A , CM000664.1:g.220286255G>A | GRCh37 |
| NC_000002.10:g.219994499G>A | NCBI36 |
| NG_008043.1:g.8157G>A , LRG_380:g.8157G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.691G>A | ||
| ENST00000683013.1:n.605G>A | ||
| ENST00000373960.4:c.1217G>A MANE Select | ENSP00000363071.3:p.Arg406Gln | |
| ENST00000373960.3:c.1217G>A | ENSP00000363071.3:p.Arg406Gln | |
| ENST00000477226.5:n.689G>A | ||
| ENST00000492726.1:n.612G>A | ||
| NM_001927.3:c.1217G>A , LRG_380t1:c.1217G>A | NP_001918.3:p.Arg406Gln | |
| NM_001927.4:c.1217G>A MANE Select | NP_001918.3:p.Arg406Gln | |
| NM_001382708.1:c.1214G>A | NP_001369637.1:p.Arg405Gln | |
| NM_001382709.1:c.785G>A | NP_001369638.1:p.Arg262Gln | |
| NM_001382710.1:c.1148G>A | NP_001369639.1:p.Arg383Gln | |
| NM_001382711.1:c.1196G>A | NP_001369640.1:p.Arg399Gln | |
| NM_001382712.1:c.1217G>A | NP_001369641.1:p.Arg406Gln | |
| NM_001382713.1:c.947G>A | NP_001369642.1:p.Arg316Gln |