Linked Data
ClinVar Variation Id:
347392
ClinVar RCV Id:
RCV000370389
dbSNP Id:
rs146650218
ExAC:
4:119203259 G / A
gnomAD v2:
4-119203259-G-A
gnomAD v3:
4-118282104-G-A
gnomAD v4:
4-118282104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118282104G>A , CM000666.2:g.118282104G>A | GRCh38 |
| NC_000004.11:g.119203259G>A , CM000666.1:g.119203259G>A | GRCh37 |
| NC_000004.10:g.119422707G>A | NCBI36 |
| NG_023350.1:g.75664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.2460C>T MANE Select | ENSP00000296498.3:p.Ser820= | |
| NM_003619.3:c.2460C>T | NP_003610.2:p.Ser820= | |
| NM_003619.4:c.2460C>T MANE Select | NP_003610.2:p.Ser820= |