Linked Data
ClinVar Variation Id:
1669646
ClinVar RCV Id:
RCV002198713
dbSNP Id:
rs1057480002
gnomAD v2:
3-33156054-G-A
gnomAD v3:
3-33114562-G-A
gnomAD v4:
3-33114562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114562G>A , CM000665.2:g.33114562G>A | GRCh38 |
| NC_000003.11:g.33156054G>A , CM000665.1:g.33156054G>A | GRCh37 |
| NC_000003.10:g.33131058G>A | NCBI36 |
| NG_008122.1:g.5605G>A , LRG_4:g.5605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.471+14G>A MANE Select | ENSP00000323696.5:n.471+14G>A | |
| ENST00000320954.10:c.471+14G>A | ENSP00000323696.5:n.471+14G>A | |
| ENST00000449224.1:c.471+14G>A | ENSP00000409997.1:n.471+14G>A | |
| NM_006371.4:c.471+14G>A , LRG_4t1:c.471+14G>A | NP_006362.1:n.471+14G>A | |
| NM_006371.5:c.471+14G>A MANE Select | NP_006362.1:n.471+14G>A | |
| NM_001393363.1:c.471+14G>A | NP_001380292.1:n.471+14G>A | |
| NM_001393364.1:c.471+14G>A | NP_001380293.1:n.471+14G>A | |
| NM_001393365.1:c.471+14G>A | NP_001380294.1:n.471+14G>A |