Linked Data
ClinVar Variation Id:
402955
dbSNP Id:
rs2502726
ExAC:
16:70972595 T / C
gnomAD v2:
16-70972595-T-C
gnomAD v3:
16-70938692-T-C
gnomAD v4:
16-70938692-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70938692T>C , CM000678.2:g.70938692T>C | GRCh38 |
| NC_000016.9:g.70972595T>C , CM000678.1:g.70972595T>C | GRCh37 |
| NG_033116.1:g.297031A>G | |
| NG_033116.2:g.297031A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393567.7:c.6917A>G MANE Select | ENSP00000377197.2:p.Glu2306Gly | |
| ENST00000309900.11:n.1437A>G | ||
| ENST00000393567.6:c.6917A>G | ENSP00000377197.2:p.Glu2306Gly | |
| NM_001270974.1:c.6917A>G | NP_001257903.1:p.Glu2306Gly | |
| XM_006721206.2:c.6968A>G | XP_006721269.1:p.Glu2323Gly | |
| XM_011523146.1:c.7100A>G | XP_011521448.1:p.Glu2367Gly | |
| XM_011523147.1:c.7070A>G | XP_011521449.1:p.Glu2357Gly | |
| XM_011523148.1:c.7019A>G | XP_011521450.1:p.Glu2340Gly | |
| XM_011523149.1:c.7019A>G | XP_011521451.1:p.Glu2340Gly | |
| XM_011523150.1:c.7019A>G | XP_011521452.1:p.Glu2340Gly | |
| XM_011523151.1:c.6998A>G | XP_011521453.1:p.Glu2333Gly | |
| XM_011523152.1:c.779A>G | XP_011521454.1:p.Glu260Gly | |
| XM_011523153.1:c.305A>G | XP_011521455.1:p.Glu102Gly | |
| XM_011523154.1:c.-97A>G | XP_011521456.1:n.-97A>G | |
| NM_001270974.2:c.6917A>G MANE Select | NP_001257903.1:p.Glu2306Gly | |
| XM_006721206.3:c.6968A>G | XP_006721269.1:p.Glu2323Gly | |
| XM_011523146.2:c.7100A>G | XP_011521448.1:p.Glu2367Gly | |
| XM_011523151.2:c.6998A>G | XP_011521453.1:p.Glu2333Gly | |
| XM_017023346.2:c.7037A>G | XP_016878835.1:p.Glu2346Gly | |
| XM_017023347.1:c.5129A>G | XP_016878836.1:p.Glu1710Gly | |
| XM_017023348.1:c.5129A>G | XP_016878837.1:p.Glu1710Gly |