Linked Data
ClinVar Variation Id:
363584
dbSNP Id:
rs201867790
ExAC:
8:65527711 C / T
gnomAD v2:
8-65527711-C-T
gnomAD v3:
8-64615154-C-T
gnomAD v4:
8-64615154-C-T
COSMIC:
COSM194340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64615154C>T , CM000670.2:g.64615154C>T | GRCh38 |
| NC_000008.10:g.65527711C>T , CM000670.1:g.65527711C>T | GRCh37 |
| NC_000008.9:g.65690265C>T | NCBI36 |
| NG_008338.1:g.188638G>A | |
| NG_008338.2:g.188638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.929G>A MANE Select | ENSP00000310721.3:p.Arg310Gln | |
| ENST00000310193.3:c.929G>A | ENSP00000310721.3:p.Arg310Gln | |
| ENST00000523954.1:n.203G>A | ||
| NM_004820.3:c.929G>A | NP_004811.1:p.Arg310Gln | |
| NM_001324112.1:c.929G>A | NP_001311041.1:p.Arg310Gln | |
| NM_004820.4:c.929G>A | NP_004811.1:p.Arg310Gln | |
| XM_017014002.1:c.995G>A | XP_016869491.1:p.Arg332Gln | |
| NM_004820.5:c.929G>A MANE Select | NP_004811.1:p.Arg310Gln | |
| NM_001324112.2:c.929G>A | NP_001311041.1:p.Arg310Gln |