Linked Data
ClinVar Variation Id:
482929
dbSNP Id:
rs1371814796
gnomAD v2:
17-41226376-T-G
gnomAD v4:
17-43074359-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074359T>G , CM000679.2:g.43074359T>G | GRCh38 |
| NC_000017.10:g.41226376T>G , CM000679.1:g.41226376T>G | GRCh37 |
| NC_000017.9:g.38479902T>G | NCBI36 |
| NG_005905.2:g.143625A>C , LRG_292:g.143625A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4644A>C | ENSP00000417241.2:p.Glu1548Asp | |
| ENST00000470026.6:c.4647A>C | ENSP00000419274.2:p.Glu1549Asp | |
| ENST00000473961.6:c.4521A>C | ENSP00000420201.2:p.Glu1507Asp | |
| ENST00000476777.6:c.4641A>C | ENSP00000417554.2:p.Glu1547Asp | |
| ENST00000477152.6:c.4569A>C | ENSP00000419988.2:p.Glu1523Asp | |
| ENST00000478531.6:c.1335A>C | ENSP00000420412.2:p.Glu445Asp | |
| ENST00000489037.2:c.4569A>C | ENSP00000420781.2:p.Glu1523Asp | |
| ENST00000493919.6:c.1197A>C | ENSP00000418819.2:p.Glu399Asp | |
| ENST00000494123.6:c.4647A>C | ENSP00000419103.2:p.Glu1549Asp | |
| ENST00000497488.2:c.3759A>C | ENSP00000418986.2:p.Glu1253Asp | |
| ENST00000618469.2:c.4647A>C | ENSP00000478114.2:p.Glu1549Asp | |
| ENST00000634433.2:c.4524A>C | ENSP00000489431.2:p.Glu1508Asp | |
| ENST00000644379.2:c.4713A>C | ENSP00000496570.2:p.Glu1571Asp | |
| ENST00000644555.2:c.1197A>C | ENSP00000494614.2:p.Glu399Asp | |
| ENST00000652672.2:c.4506A>C | ENSP00000498906.2:p.Glu1502Asp | |
| ENST00000484087.6:c.1209A>C | ENSP00000419481.2:p.Glu403Asp | |
| ENST00000700182.1:c.1254A>C | ENSP00000514849.1:p.Glu418Asp | |
| ENST00000357654.9:c.4647A>C MANE Select | ENSP00000350283.3:p.Glu1549Asp | |
| ENST00000471181.7:c.4710A>C | ENSP00000418960.2:p.Glu1570Asp | |
| ENST00000644379.1:c.1034A>C | ||
| ENST00000352993.7:c.1221A>C | ENSP00000312236.5:p.Glu407Asp | |
| ENST00000357654.7:c.4647A>C | ENSP00000350283.3:p.Glu1549Asp | |
| ENST00000461221.5:c.*4430A>C | ENSP00000418548.1:n.*4430A>C | |
| ENST00000468300.5:c.1335A>C | ENSP00000417148.1:p.Glu445Asp | |
| ENST00000471181.6:c.4710A>C | ENSP00000418960.2:p.Glu1570Asp | |
| ENST00000478531.5:c.1335A>C | ENSP00000420412.1:p.Glu445Asp | |
| ENST00000484087.5:c.960A>C | ENSP00000419481.1:p.Glu320Asp | |
| ENST00000491747.6:c.1335A>C | ENSP00000420705.2:p.Glu445Asp | |
| ENST00000493795.5:c.4506A>C | ENSP00000418775.1:p.Glu1502Asp | |
| ENST00000493919.5:c.1197A>C | ENSP00000418819.1:p.Glu399Asp | |
| ENST00000586385.5:c.5-10408A>C | ENSP00000465818.1:n.5-10408A>C | |
| ENST00000591534.5:c.120A>C | ENSP00000467329.1:p.Glu40Asp | |
| ENST00000591849.5:c.-98-24169A>C | ENSP00000465347.1:n.-98-24169A>C | |
| NM_007294.3:c.4647A>C , LRG_292t1:c.4647A>C | NP_009225.1:p.Glu1549Asp | |
| NM_007297.3:c.4506A>C | NP_009228.2:p.Glu1502Asp | |
| NM_007298.3:c.1335A>C | NP_009229.2:p.Glu445Asp | |
| NM_007299.3:c.1335A>C | NP_009230.2:p.Glu445Asp | |
| NM_007300.3:c.4710A>C | NP_009231.2:p.Glu1570Asp | |
| NR_027676.1:n.4783A>C | ||
| NM_007294.4:c.4647A>C MANE Select | NP_009225.1:p.Glu1549Asp | |
| NM_007297.4:c.4506A>C | NP_009228.2:p.Glu1502Asp | |
| NM_007299.4:c.1335A>C | NP_009230.2:p.Glu445Asp | |
| NM_007300.4:c.4710A>C | NP_009231.2:p.Glu1570Asp | |
| NR_027676.2:n.4824A>C |