Linked Data
dbSNP Id:
rs10645926
gnomAD v2:
8-19824626-C-CT
gnomAD v3:
8-19967115-C-CT
gnomAD v4:
8-19967115-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967116dup , CM000670.2:g.19967116dup | GRCh38 |
| NC_000008.10:g.19824627dup , CM000670.1:g.19824627dup | GRCh37 |
| NC_000008.9:g.19868907dup | NCBI36 |
| NG_008855.1:g.33046dup | |
| NG_008855.2:g.70400dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1806dup MANE Select | ENSP00000497642.1:n.*1806dup | |
| ENST00000650478.1:c.2174dup | ENSP00000497560.1:n.2174dup | |
| ENST00000311322.8:c.*1806dup | ENSP00000309757.6:n.*1806dup | |
| NM_000237.2:c.*1806dup | NP_000228.1:n.*1806dup | |
| NM_000237.3:c.*1806dup MANE Select | NP_000228.1:n.*1806dup |