Linked Data
ClinVar Variation Id:
181690
dbSNP Id:
rs76410435
ExAC:
18:29178549 G / A
gnomAD v2:
18-29178549-G-A
gnomAD v3:
18-31598586-G-A
gnomAD v4:
18-31598586-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598586G>A , CM000680.2:g.31598586G>A | GRCh38 |
| NC_000018.9:g.29178549G>A , CM000680.1:g.29178549G>A | GRCh37 |
| NC_000018.8:g.27432547G>A | NCBI36 |
| NG_009490.1:g.11820G>A , LRG_416:g.11820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.355G>A MANE Select | ENSP00000237014.4:p.Asp119Asn | |
| ENST00000610404.5:c.259G>A | ENSP00000477599.2:p.Asp87Asn | |
| ENST00000649620.1:c.355G>A | ENSP00000497927.1:p.Asp119Asn | |
| ENST00000237014.7:c.355G>A | ENSP00000237014.3:p.Asp119Asn | |
| ENST00000610404.4:c.469G>A | ENSP00000477599.1:p.Asp157Asn | |
| ENST00000613781.1:c.355G>A | ENSP00000479174.1:p.Asp119Asn | |
| NM_000371.3:c.355G>A , LRG_416t1:c.355G>A | NP_000362.1:p.Asp119Asn | |
| NM_000371.4:c.355G>A MANE Select | NP_000362.1:p.Asp119Asn |