Linked Data
ClinVar Variation Id:
530807
ClinVar RCV Id:
RCV000636846
dbSNP Id:
rs776289036
ExAC:
13:23853609 G / A
gnomAD v2:
13-23853609-G-A
gnomAD v3:
13-23279470-G-A
gnomAD v4:
13-23279470-G-A
COSMIC:
COSM5582480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23279470G>A , CM000675.2:g.23279470G>A | GRCh38 |
| NC_000013.10:g.23853609G>A , CM000675.1:g.23853609G>A | GRCh37 |
| NC_000013.9:g.22751609G>A | NCBI36 |
| NG_008759.1:g.103550G>A , LRG_207:g.103550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.497G>A MANE Select | ENSP00000218867.3:p.Arg166Gln | |
| ENST00000218867.3:c.497G>A | ENSP00000218867.3:p.Arg166Gln | |
| NM_000231.2:c.497G>A , LRG_207t1:c.497G>A | NP_000222.1:p.Arg166Gln | |
| XM_005266505.2:c.497G>A | XP_005266562.1:p.Arg166Gln | |
| XM_006719861.2:c.551G>A | XP_006719924.1:p.Arg184Gln | |
| XM_006719861.3:c.551G>A | XP_006719924.1:p.Arg184Gln | |
| XM_024449397.1:c.497G>A | XP_024305165.1:p.Arg166Gln | |
| NM_000231.3:c.497G>A MANE Select | NP_000222.2:p.Arg166Gln | |
| NM_001378244.1:c.551G>A | NP_001365173.1:p.Arg184Gln | |
| NM_001378245.1:c.497G>A | NP_001365174.1:p.Arg166Gln | |
| NM_001378246.1:c.497G>A | NP_001365175.1:p.Arg166Gln |