Linked Data
ClinVar Variation Id:
343036
ClinVar RCV Id:
RCV000384238
dbSNP Id:
rs189776179
ExAC:
3:124467686 G / A
gnomAD v2:
3-124467686-G-A
gnomAD v3:
3-124748839-G-A
gnomAD v4:
3-124748839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124748839G>A , CM000665.2:g.124748839G>A | GRCh38 |
| NC_000003.11:g.124467686G>A , CM000665.1:g.124467686G>A | GRCh37 |
| NC_000003.10:g.125950376G>A | NCBI36 |
| NG_017037.1:g.23474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*4755G>A MANE Select | ENSP00000232607.2:n.*4755G>A | |
| ENST00000232607.6:c.*4755G>A | ENSP00000232607.2:n.*4755G>A | |
| NM_000373.3:c.*4755G>A | NP_000364.1:n.*4755G>A | |
| NR_033434.1:n.6150G>A | ||
| NR_033437.1:n.6403G>A | ||
| XR_001740253.2:n.6432G>A | ||
| NM_000373.4:c.*4755G>A MANE Select | NP_000364.1:n.*4755G>A | |
| NR_033434.2:n.6064G>A | ||
| NR_033437.2:n.6317G>A |