Linked Data
ClinVar Variation Id:
499886
dbSNP Id:
rs769392747
ExAC:
2:238234239 C / G
gnomAD v2:
2-238234239-C-G
gnomAD v3:
2-237325596-C-G
gnomAD v4:
2-237325596-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325596C>G , CM000664.2:g.237325596C>G | GRCh38 |
| NC_000002.11:g.238234239C>G , CM000664.1:g.238234239C>G | GRCh37 |
| NC_000002.10:g.237898978C>G | NCBI36 |
| NG_008676.1:g.93612G>C , LRG_473:g.93612G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1838G>C | ||
| ENST00000353578.9:c.8839G>C | ENSP00000315873.4:p.Gly2947Arg | |
| ENST00000682957.1:c.1584G>C | ||
| ENST00000683348.1:c.323G>C | ENSP00000508058.1:n.323G>C | |
| ENST00000295550.9:c.9457G>C MANE Select | ENSP00000295550.4:p.Gly3153Arg | |
| ENST00000295550.8:c.9457G>C | ENSP00000295550.4:p.Gly3153Arg | |
| ENST00000347401.7:c.7633G>C | ENSP00000315609.4:p.Gly2545Arg | |
| ENST00000353578.8:c.8839G>C | ENSP00000315873.4:p.Gly2947Arg | |
| ENST00000409809.5:c.8839G>C | ENSP00000386844.1:p.Gly2947Arg | |
| ENST00000472056.5:c.7636G>C | ENSP00000418285.1:p.Gly2546Arg | |
| ENST00000473258.1:n.4585G>C | ||
| ENST00000491769.1:n.5899G>C | ||
| NM_004369.3:c.9457G>C , LRG_473t1:c.9457G>C | NP_004360.2:p.Gly3153Arg | |
| NM_057166.4:c.7636G>C | NP_476507.3:p.Gly2546Arg | |
| NM_057167.3:c.8839G>C | NP_476508.2:p.Gly2947Arg | |
| XM_005246065.1:c.8857G>C | XP_005246122.1:p.Gly2953Arg | |
| XM_005246066.1:c.8236G>C | XP_005246123.1:p.Gly2746Arg | |
| XM_006712253.1:c.8956G>C | XP_006712316.1:p.Gly2986Arg | |
| XM_011510574.1:c.9454G>C | XP_011508876.1:p.Gly3152Arg | |
| XM_011510575.1:c.7051G>C | XP_011508877.1:p.Gly2351Arg | |
| XM_017003304.1:c.7051G>C | XP_016858793.1:p.Gly2351Arg | |
| XM_024452684.1:c.8236G>C | XP_024308452.1:p.Gly2746Arg | |
| NM_004369.4:c.9457G>C MANE Select | NP_004360.2:p.Gly3153Arg | |
| NM_057166.5:c.7636G>C | NP_476507.3:p.Gly2546Arg | |
| NM_057167.4:c.8839G>C | NP_476508.2:p.Gly2947Arg |