Linked Data
ClinVar Variation Id:
438051
dbSNP Id:
rs1182983579
gnomAD v3:
7-23125163-A-G
gnomAD v4:
7-23125163-A-G
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23125163A>G , CM000669.2:g.23125163A>G | GRCh38 |
| NC_000007.13:g.23164782A>G , CM000669.1:g.23164782A>G | GRCh37 |
| NC_000007.12:g.23131307A>G | NCBI36 |
| NG_016983.1:g.24430A>G | |
| NG_016983.2:g.24430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.433A>G MANE Select | ENSP00000343273.4:p.Asn145Asp | |
| ENST00000322275.9:c.433A>G | ENSP00000323270.5:p.Asn145Asp | |
| ENST00000339077.9:c.433A>G | ENSP00000343273.4:p.Asn145Asp | |
| ENST00000409689.5:c.289A>G | ENSP00000386263.1:p.Asn97Asp | |
| ENST00000410047.1:c.367A>G | ENSP00000386999.1:p.Asn123Asp | |
| ENST00000459661.5:n.567A>G | ||
| ENST00000477076.1:n.184A>G | ||
| ENST00000479288.5:n.390-15606A>G | ||
| ENST00000479700.1:n.452A>G | ||
| ENST00000491352.5:n.474A>G | ||
| ENST00000521082.5:c.*441A>G | ENSP00000430351.1:n.*441A>G | |
| NM_001031710.2:c.433A>G | NP_001026880.2:p.Asn145Asp | |
| NM_001172428.1:c.433A>G | NP_001165899.1:p.Asn145Asp | |
| NM_018846.4:c.289A>G | NP_061334.4:p.Asn97Asp | |
| NR_033328.1:n.857A>G | ||
| NR_033329.1:n.857A>G | ||
| XM_006715753.1:c.433A>G | XP_006715816.1:p.Asn145Asp | |
| XM_006715754.1:c.367A>G | XP_006715817.1:p.Asn123Asp | |
| XM_006715755.1:c.367A>G | XP_006715818.1:p.Asn123Asp | |
| XM_006715756.1:c.289A>G | XP_006715819.1:p.Asn97Asp | |
| XM_006715757.2:c.433A>G | XP_006715820.1:p.Asn145Asp | |
| XM_006715753.3:c.433A>G | XP_006715816.1:p.Asn145Asp | |
| XM_006715754.3:c.367A>G | XP_006715817.1:p.Asn123Asp | |
| XM_006715755.3:c.367A>G | XP_006715818.1:p.Asn123Asp | |
| XM_006715756.3:c.289A>G | XP_006715819.1:p.Asn97Asp | |
| XM_006715757.4:c.433A>G | XP_006715820.1:p.Asn145Asp | |
| XM_017012439.2:c.367A>G | XP_016867928.1:p.Asn123Asp | |
| XM_017012440.2:c.433A>G | XP_016867929.1:p.Asn145Asp | |
| XM_017012441.2:c.367A>G | XP_016867930.1:p.Asn123Asp | |
| NM_001031710.3:c.433A>G MANE Select | NP_001026880.2:p.Asn145Asp | |
| NM_018846.5:c.289A>G | NP_061334.4:p.Asn97Asp | |
| NR_033328.2:n.806A>G | ||
| NM_001172428.2:c.433A>G | NP_001165899.1:p.Asn145Asp | |
| NR_033329.2:n.806A>G |