Linked Data
ClinVar Variation Id:
485504
ClinVar RCV Id:
RCV000570849
dbSNP Id:
rs1348090532
gnomAD v2:
12-12870780-A-G
gnomAD v4:
12-12717846-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717846A>G , CM000674.2:g.12717846A>G | GRCh38 |
| NC_000012.11:g.12870780A>G , CM000674.1:g.12870780A>G | GRCh37 |
| NC_000012.10:g.12762047A>G | NCBI36 |
| NG_016341.1:g.5479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.7A>G | ENSP00000507272.1:p.Asn3Asp | |
| ENST00000682620.1:n.1631-979A>G | ||
| ENST00000684771.1:n.585-979A>G | ||
| ENST00000228872.9:c.7A>G MANE Select | ENSP00000228872.4:p.Asn3Asp | |
| ENST00000228872.8:c.7A>G | ENSP00000228872.4:p.Asn3Asp | |
| ENST00000396340.1:c.7A>G | ENSP00000379629.1:p.Asn3Asp | |
| ENST00000477087.1:n.155-979A>G | ||
| NM_004064.4:c.7A>G | NP_004055.1:p.Asn3Asp | |
| NM_004064.5:c.7A>G MANE Select | NP_004055.1:p.Asn3Asp |