Linked Data
ClinVar Variation Id:
2896814
ClinVar RCV Id:
RCV003733125
dbSNP Id:
rs768567586
ExAC:
7:31008454 G / A
gnomAD v2:
7-31008454-G-A
gnomAD v3:
7-30968839-G-A
gnomAD v4:
7-30968839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30968839G>A , CM000669.2:g.30968839G>A | GRCh38 |
| NC_000007.13:g.31008454G>A , CM000669.1:g.31008454G>A | GRCh37 |
| NC_000007.12:g.30974979G>A | NCBI36 |
| NG_021416.1:g.9819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.63G>A MANE Select | ENSP00000320180.2:p.Leu21= | |
| ENST00000326139.6:c.63G>A | ENSP00000320180.2:p.Leu21= | |
| ENST00000466427.1:n.290G>A | ||
| NM_000823.3:c.63G>A | NP_000814.2:p.Leu21= | |
| NM_000823.4:c.63G>A MANE Select | NP_000814.2:p.Leu21= |