Linked Data
dbSNP Id:
rs1400873202
gnomAD v3:
12-110717534-C-CA
gnomAD v4:
12-110717534-C-CA
MyVariant Identifiers:
chr12:g.111155339_111155340insA (hg19)
chr12:g.110717534_110717535insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717535dup , CM000674.2:g.110717535dup | GRCh38 |
| NC_000012.11:g.111155340dup , CM000674.1:g.111155340dup | GRCh37 |
| NC_000012.10:g.109639723dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2388dup | XP_011536806.1:n.944-2388dup | |
| XM_011538505.1:c.943+3570dup | XP_011536807.1:n.943+3570dup | |
| XM_011538504.3:c.944-2388dup | XP_011536806.1:n.944-2388dup | |
| XM_011538505.3:c.943+3570dup | XP_011536807.1:n.943+3570dup |