Linked Data
ClinVar Variation Id:
2588350
ClinVar RCV Id:
RCV004338819
dbSNP Id:
rs138529175
ExAC:
7:5266906 A / G
gnomAD v2:
7-5266906-A-G
gnomAD v3:
7-5227275-A-G
gnomAD v4:
7-5227275-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5227275A>G , CM000669.2:g.5227275A>G | GRCh38 |
| NC_000007.13:g.5266906A>G , CM000669.1:g.5266906A>G | GRCh37 |
| NC_000007.12:g.5233432A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288828.9:c.944A>G MANE Select | ENSP00000288828.4:p.Asn315Ser | |
| ENST00000288828.8:c.944A>G | ENSP00000288828.4:p.Asn315Ser | |
| ENST00000382384.6:c.890A>G | ENSP00000371821.2:p.Asn297Ser | |
| ENST00000401525.7:c.890A>G | ENSP00000384945.3:p.Asn297Ser | |
| ENST00000404704.7:c.944A>G | ENSP00000385297.3:p.Asn315Ser | |
| ENST00000466014.5:n.1279A>G | ||
| ENST00000471851.1:n.1326A>G | ||
| ENST00000484262.1:c.767A>G | ENSP00000429654.1:p.Asn256Ser | |
| NM_001033518.1:c.944A>G | NP_001028690.1:p.Asn315Ser | |
| NM_001033519.1:c.890A>G | NP_001028691.1:p.Asn297Ser | |
| NM_001033520.1:c.767A>G | NP_001028692.1:p.Asn256Ser | |
| NM_001278299.1:c.512A>G | NP_001265228.1:p.Asn171Ser | |
| NM_015610.3:c.944A>G | NP_056425.1:p.Asn315Ser | |
| NM_016003.3:c.890A>G | NP_057087.2:p.Asn297Ser | |
| XM_006715685.1:c.512A>G | XP_006715748.1:p.Asn171Ser | |
| XM_017011952.1:c.512A>G | XP_016867441.1:p.Asn171Ser | |
| NM_015610.4:c.944A>G MANE Select | NP_056425.1:p.Asn315Ser | |
| NM_001033518.2:c.944A>G | NP_001028690.1:p.Asn315Ser | |
| NM_001033519.2:c.890A>G | NP_001028691.1:p.Asn297Ser | |
| NM_001278299.2:c.512A>G | NP_001265228.1:p.Asn171Ser | |
| NM_016003.4:c.890A>G | NP_057087.2:p.Asn297Ser |