Linked Data
ClinVar Variation Id:
1646514
ClinVar RCV Id:
RCV002151166
dbSNP Id:
rs1430562775
gnomAD v2:
15-48782115-C-T
gnomAD v4:
15-48489918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489918C>T , CM000677.2:g.48489918C>T | GRCh38 |
| NC_000015.9:g.48782115C>T , CM000677.1:g.48782115C>T | GRCh37 |
| NC_000015.8:g.46569407C>T | NCBI36 |
| NG_008805.2:g.160871G>A , LRG_778:g.160871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3015G>A | ENSP00000453958.2:p.Glu1005= | |
| ENST00000674301.2:c.3015G>A | ENSP00000501333.2:p.Glu1005= | |
| ENST00000684448.1:n.1689G>A | ||
| ENST00000316623.10:c.3015G>A MANE Select | ENSP00000325527.5:p.Glu1005= | |
| ENST00000316623.9:c.3015G>A | ENSP00000325527.5:p.Glu1005= | |
| ENST00000537463.6:c.637-15268G>A | ENSP00000440294.2:n.637-15268G>A | |
| NM_000138.4:c.3015G>A , LRG_778t1:c.3015G>A | NP_000129.3:p.Glu1005= | |
| NM_000138.5:c.3015G>A MANE Select | NP_000129.3:p.Glu1005= |