Linked Data
ClinVar Variation Id:
1229473
ClinVar RCV Id:
RCV001609713
dbSNP Id:
rs5861422
gnomAD v2:
4-120243336-TA-T
gnomAD v3:
4-119322181-TA-T
gnomAD v4:
4-119322181-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119322182del , CM000666.2:g.119322182del | GRCh38 |
| NC_000004.11:g.120243337del , CM000666.1:g.120243337del | GRCh37 |
| NC_000004.10:g.120462785del | NCBI36 |
| NG_011444.1:g.4980del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.3:c.-80del | ENSP00000274024.3:n.-80del |