Linked Data
dbSNP Id:
rs67177828
gnomAD v2:
2-217863335-AT-A
gnomAD v3:
2-216998612-AT-A
gnomAD v4:
2-216998612-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998619del , CM000664.2:g.216998619del | GRCh38 |
| NC_000002.11:g.217863342del , CM000664.1:g.217863342del | GRCh37 |
| NC_000002.10:g.217571587del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4601del | ||
| XR_923883.1:n.294+4601del | ||
| XR_923885.1:n.862+4601del | ||
| XR_923886.1:n.300-2428del | ||
| XR_923887.1:n.299+4601del | ||
| XR_001739169.1:n.11844+4601del | ||
| XR_001739170.2:n.8480+4601del | ||
| XR_001739171.2:n.8347+4601del |