Linked Data
ClinVar Variation Id:
287090
dbSNP Id:
rs144177566
ExAC:
6:24532351 G / A
gnomAD v2:
6-24532351-G-A
gnomAD v3:
6-24532123-G-A
gnomAD v4:
6-24532123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24532123G>A , CM000668.2:g.24532123G>A | GRCh38 |
| NC_000006.11:g.24532351G>A , CM000668.1:g.24532351G>A | GRCh37 |
| NC_000006.10:g.24640330G>A | NCBI36 |
| NG_008161.1:g.42155G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1348G>A MANE Select | ENSP00000350191.3:p.Asp450Asn | |
| ENST00000479394.2:n.463G>A | ||
| ENST00000672352.1:c.967G>A | ENSP00000500876.1:p.Asp323Asn | |
| ENST00000672652.1:c.1311G>A | ||
| ENST00000348925.2:c.1387G>A | ENSP00000314649.3:p.Asp463Asn | |
| ENST00000357578.7:c.1348G>A | ENSP00000350191.3:p.Asp450Asn | |
| ENST00000479394.1:n.463G>A | ||
| ENST00000491546.5:c.1264G>A | ENSP00000417687.1:p.Asp422Asn | |
| ENST00000492697.1:n.114G>A | ||
| NM_001080.3:c.1348G>A MANE Select | NP_001071.1:p.Asp450Asn | |
| NM_170740.1:c.1387G>A | NP_733936.1:p.Asp463Asn | |
| NM_001368954.1:c.1204G>A | NP_001355883.1:p.Asp402Asn |