Linked Data
ClinVar Variation Id:
224820
ClinVar RCV Id:
RCV000210381
dbSNP Id:
rs869312870
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113789792A>G , CM000665.2:g.113789792A>G | GRCh38 |
| NC_000003.11:g.113508639A>G , CM000665.1:g.113508639A>G | GRCh37 |
| NC_000003.10:g.114991329A>G | NCBI36 |
| NG_047012.1:g.47774A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496747.6:c.841A>G | ENSP00000417545.2:p.Asn281Asp | |
| ENST00000703904.2:c.940A>G | ENSP00000515542.1:p.Asn314Asp | |
| ENST00000703908.1:c.564+4959A>G | ENSP00000515545.1:n.564+4959A>G | |
| ENST00000703909.1:c.940A>G | ENSP00000515546.1:p.Asn314Asp | |
| ENST00000703910.1:c.940A>G | ENSP00000515547.1:p.Asn314Asp | |
| ENST00000703911.1:c.940A>G | ENSP00000515548.1:p.Asn314Asp | |
| ENST00000273398.8:c.940A>G MANE Select | ENSP00000273398.3:p.Asn314Asp | |
| ENST00000273398.7:c.940A>G | ENSP00000273398.3:p.Asn314Asp | |
| ENST00000470455.5:c.*842A>G | ENSP00000420146.1:n.*842A>G | |
| NM_001690.3:c.940A>G | NP_001681.2:p.Asn314Asp | |
| NM_001690.4:c.940A>G MANE Select | NP_001681.2:p.Asn314Asp |