Linked Data
ClinVar Variation Id:
2177791
ClinVar RCV Id:
RCV002595291
dbSNP Id:
rs746952064
ExAC:
17:45360904 G / A
gnomAD v2:
17-45360904-G-A
gnomAD v3:
17-47283538-G-A
gnomAD v4:
17-47283538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283538G>A , CM000679.2:g.47283538G>A | GRCh38 |
| NC_000017.10:g.45360904G>A , CM000679.1:g.45360904G>A | GRCh37 |
| NC_000017.9:g.42715903G>A | NCBI36 |
| NG_008332.2:g.34697G>A , LRG_481:g.34697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.350G>A | ENSP00000513002.1:p.Arg117Gln | |
| ENST00000559488.7:c.350G>A MANE Select | ENSP00000452786.2:p.Arg117Gln | |
| ENST00000559488.5:c.350G>A | ENSP00000452786.1:p.Arg117Gln | |
| ENST00000560629.1:c.315G>A | ||
| ENST00000571680.1:c.350G>A | ENSP00000461626.1:p.Arg117Gln | |
| NM_000212.2:c.350G>A , LRG_481t1:c.350G>A | NP_000203.2:p.Arg117Gln | |
| NM_000212.3:c.350G>A MANE Select | NP_000203.2:p.Arg117Gln |