Linked Data
ClinVar Variation Id:
347372
ClinVar RCV Id:
RCV000302730
dbSNP Id:
rs150249635
gnomAD v2:
4-119201476-G-A
gnomAD v3:
4-118280321-G-A
gnomAD v4:
4-118280321-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118280321G>A , CM000666.2:g.118280321G>A | GRCh38 |
| NC_000004.11:g.119201476G>A , CM000666.1:g.119201476G>A | GRCh37 |
| NC_000004.10:g.119420924G>A | NCBI36 |
| NG_023350.1:g.77447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.*1615C>T MANE Select | ENSP00000296498.3:n.*1615C>T | |
| NM_003619.3:c.*1615C>T | NP_003610.2:n.*1615C>T | |
| NM_003619.4:c.*1615C>T MANE Select | NP_003610.2:n.*1615C>T |