Linked Data
dbSNP Id:
rs778290033
gnomAD v3:
5-142392092-C-CTCCTTCCTTCCT
gnomAD v4:
5-142392092-C-CTCCTTCCTTCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142392160_142392171dup , CM000667.2:g.142392160_142392171dup | GRCh38 |
| NC_000005.9:g.141771725_141771736dup , CM000667.1:g.141771725_141771736dup | GRCh37 |
| NC_000005.8:g.141751909_141751920dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.506+38577_506+38588dup |