Linked Data
ClinVar Variation Id:
425310
ClinVar RCV Id:
RCV000488344
dbSNP Id:
rs759637818
ExAC:
3:129249892 T / C
gnomAD v2:
3-129249892-T-C
gnomAD v3:
3-129531049-T-C
gnomAD v4:
3-129531049-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531049T>C , CM000665.2:g.129531049T>C | GRCh38 |
| NC_000003.11:g.129249892T>C , CM000665.1:g.129249892T>C | GRCh37 |
| NC_000003.10:g.130732582T>C | NCBI36 |
| NG_009115.1:g.7411T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.530+5T>C MANE Select | ENSP00000296271.3:n.530+5T>C | |
| ENST00000296271.3:c.530+5T>C | ENSP00000296271.3:n.530+5T>C | |
| NM_000539.3:c.530+5T>C MANE Select | NP_000530.1:n.530+5T>C |