Linked Data
ClinVar Variation Id:
596421
dbSNP Id:
rs57965306
ExAC:
2:220286087 G / A
gnomAD v2:
2-220286087-G-A
gnomAD v3:
2-219421365-G-A
gnomAD v4:
2-219421365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421365G>A , CM000664.2:g.219421365G>A | GRCh38 |
| NC_000002.11:g.220286087G>A , CM000664.1:g.220286087G>A | GRCh37 |
| NC_000002.10:g.219994331G>A | NCBI36 |
| NG_008043.1:g.7989G>A , LRG_380:g.7989G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.523G>A | ||
| ENST00000683013.1:n.437G>A | ||
| ENST00000373960.4:c.1049G>A MANE Select | ENSP00000363071.3:p.Arg350Gln | |
| ENST00000373960.3:c.1049G>A | ENSP00000363071.3:p.Arg350Gln | |
| ENST00000477226.5:n.521G>A | ||
| ENST00000492726.1:n.444G>A | ||
| NM_001927.3:c.1049G>A , LRG_380t1:c.1049G>A | NP_001918.3:p.Arg350Gln | |
| NM_001927.4:c.1049G>A MANE Select | NP_001918.3:p.Arg350Gln | |
| NM_001382708.1:c.1046G>A | NP_001369637.1:p.Arg349Gln | |
| NM_001382709.1:c.736-119G>A | NP_001369638.1:n.736-119G>A | |
| NM_001382710.1:c.1024-44G>A | NP_001369639.1:n.1024-44G>A | |
| NM_001382711.1:c.1028G>A | NP_001369640.1:p.Arg343Gln | |
| NM_001382712.1:c.1049G>A | NP_001369641.1:p.Arg350Gln | |
| NM_001382713.1:c.779G>A | NP_001369642.1:p.Arg260Gln |