Linked Data
ClinVar Variation Id:
347389
ClinVar RCV Id:
RCV000300164
dbSNP Id:
rs142775631
gnomAD v2:
4-119202883-G-A
gnomAD v3:
4-118281728-G-A
gnomAD v4:
4-118281728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118281728G>A , CM000666.2:g.118281728G>A | GRCh38 |
| NC_000004.11:g.119202883G>A , CM000666.1:g.119202883G>A | GRCh37 |
| NC_000004.10:g.119422331G>A | NCBI36 |
| NG_023350.1:g.76040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.*208C>T MANE Select | ENSP00000296498.3:n.*208C>T | |
| NM_003619.3:c.*208C>T | NP_003610.2:n.*208C>T | |
| NM_003619.4:c.*208C>T MANE Select | NP_003610.2:n.*208C>T |