Linked Data
ClinVar Variation Id:
802403
dbSNP Id:
rs371469177
ExAC:
8:43047493 A / G
gnomAD v2:
8-43047493-A-G
gnomAD v3:
8-43192350-A-G
gnomAD v4:
8-43192350-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43192350A>G , CM000670.2:g.43192350A>G | GRCh38 |
| NC_000008.10:g.43047493A>G , CM000670.1:g.43047493A>G | GRCh37 |
| NC_000008.9:g.43166650A>G | NCBI36 |
| NG_009552.1:g.56902A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1297A>G MANE Select | ENSP00000368965.4:p.Asn433Asp | |
| ENST00000379644.8:c.1297A>G | ENSP00000368965.4:p.Asn433Asp | |
| ENST00000520678.1:n.230A>G | ||
| ENST00000521576.1:c.448A>G | ENSP00000429029.1:p.Asn150Asp | |
| ENST00000524016.5:c.401A>G | ||
| NM_152419.2:c.1297A>G | NP_689632.2:p.Asn433Asp | |
| XM_005273409.1:c.1297A>G | XP_005273466.1:p.Asn433Asp | |
| XM_005273410.1:c.1297A>G | XP_005273467.1:p.Asn433Asp | |
| XM_005273411.1:c.1105A>G | XP_005273468.1:p.Asn369Asp | |
| XM_005273412.2:c.1297A>G | XP_005273469.1:p.Asn433Asp | |
| NM_001363227.1:c.1297A>G | NP_001350156.1:p.Asn433Asp | |
| NM_001363228.1:c.1105A>G | NP_001350157.1:p.Asn369Asp | |
| NM_001363229.1:c.433A>G | NP_001350158.1:p.Asn145Asp | |
| XM_005273412.4:c.1297A>G | XP_005273469.1:p.Asn433Asp | |
| NM_152419.3:c.1297A>G MANE Select | NP_689632.2:p.Asn433Asp | |
| NM_001363227.2:c.1297A>G | NP_001350156.1:p.Asn433Asp | |
| NM_001363228.2:c.1105A>G | NP_001350157.1:p.Asn369Asp | |
| NM_001363229.2:c.433A>G | NP_001350158.1:p.Asn145Asp |