Linked Data
dbSNP Id:
rs1358027895
gnomAD v2:
12-19779736-GT-G
gnomAD v3:
12-19626802-GT-G
gnomAD v4:
12-19626802-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19626803del , CM000674.2:g.19626803del | GRCh38 |
| NC_000012.11:g.19779737del , CM000674.1:g.19779737del | GRCh37 |
| NC_000012.10:g.19671004del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-93830del | ENSP00000445587.1:n.339-93830del | |
| XR_242921.2:n.252+23490del | ||
| XR_931408.1:n.76+797del | ||
| XR_001749034.2:n.472-23593del | ||
| XR_001749035.1:n.525+23490del | ||
| XR_001749036.1:n.526-22895del | ||
| XR_001749037.1:n.275+23490del | ||
| XR_002957408.1:n.133+797del |