Linked Data
ClinVar Variation Id:
285480
dbSNP Id:
rs773673162
ExAC:
2:238253584 C / T
gnomAD v2:
2-238253584-C-T
gnomAD v3:
2-237344941-C-T
gnomAD v4:
2-237344941-C-T
COSMIC:
COSM5460805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344941C>T , CM000664.2:g.237344941C>T | GRCh38 |
| NC_000002.11:g.238253584C>T , CM000664.1:g.238253584C>T | GRCh37 |
| NC_000002.10:g.237918323C>T | NCBI36 |
| NG_008676.1:g.74267G>A , LRG_473:g.74267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6556G>A | ENSP00000315873.4:p.Gly2186Arg | |
| ENST00000295550.9:c.7174G>A MANE Select | ENSP00000295550.4:p.Gly2392Arg | |
| ENST00000295550.8:c.7174G>A | ENSP00000295550.4:p.Gly2392Arg | |
| ENST00000347401.7:c.5342-88G>A | ENSP00000315609.4:n.5342-88G>A | |
| ENST00000353578.8:c.6556G>A | ENSP00000315873.4:p.Gly2186Arg | |
| ENST00000409809.5:c.6556G>A | ENSP00000386844.1:p.Gly2186Arg | |
| ENST00000472056.5:c.5353G>A | ENSP00000418285.1:p.Gly1785Arg | |
| ENST00000491769.1:n.1428G>A | ||
| NM_004369.3:c.7174G>A , LRG_473t1:c.7174G>A | NP_004360.2:p.Gly2392Arg | |
| NM_057166.4:c.5353G>A | NP_476507.3:p.Gly1785Arg | |
| NM_057167.3:c.6556G>A | NP_476508.2:p.Gly2186Arg | |
| XM_005246065.1:c.6574G>A | XP_005246122.1:p.Gly2192Arg | |
| XM_005246066.1:c.5953G>A | XP_005246123.1:p.Gly1985Arg | |
| XM_006712253.1:c.6673G>A | XP_006712316.1:p.Gly2225Arg | |
| XM_011510574.1:c.7171G>A | XP_011508876.1:p.Gly2391Arg | |
| XM_011510575.1:c.4768G>A | XP_011508877.1:p.Gly1590Arg | |
| XM_017003304.1:c.4768G>A | XP_016858793.1:p.Gly1590Arg | |
| XM_024452684.1:c.5953G>A | XP_024308452.1:p.Gly1985Arg | |
| NM_004369.4:c.7174G>A MANE Select | NP_004360.2:p.Gly2392Arg | |
| NM_057166.5:c.5353G>A | NP_476507.3:p.Gly1785Arg | |
| NM_057167.4:c.6556G>A | NP_476508.2:p.Gly2186Arg |