Linked Data
ClinVar Variation Id:
230339
dbSNP Id:
rs766657227
ExAC:
5:131944815 G / A
gnomAD v2:
5-131944815-G-A
gnomAD v4:
5-132609123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609123G>A , CM000667.2:g.132609123G>A | GRCh38 |
| NC_000005.9:g.131944815G>A , CM000667.1:g.131944815G>A | GRCh37 |
| NC_000005.8:g.131972714G>A | NCBI36 |
| NG_021151.1:g.57200G>A | |
| NG_021151.2:g.57147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2836G>A MANE Select | ENSP00000368100.4:p.Asp946Asn | |
| ENST00000638452.2:c.2539G>A | ENSP00000492349.2:p.Asp847Asn | |
| ENST00000638504.1:n.2444G>A | ||
| ENST00000638568.2:c.2539G>A | ENSP00000491158.2:p.Asp847Asn | |
| ENST00000639899.1:n.3355G>A | ||
| ENST00000640655.2:c.2539G>A | ENSP00000491596.2:p.Asp847Asn | |
| ENST00000651160.1:c.*980G>A | ENSP00000498829.1:n.*980G>A | |
| ENST00000651723.1:c.*2919G>A | ENSP00000498237.1:n.*2919G>A | |
| ENST00000378823.7:c.2836G>A | ENSP00000368100.4:p.Asp946Asn | |
| ENST00000423956.5:c.*1022G>A | ENSP00000390971.1:n.*1022G>A | |
| ENST00000533482.5:c.*2462G>A | ENSP00000431225.1:n.*2462G>A | |
| NM_005732.3:c.2836G>A | NP_005723.2:p.Asp946Asn | |
| NM_005732.4:c.2836G>A MANE Select | NP_005723.2:p.Asp946Asn |