Linked Data
dbSNP Id:
rs878858723
gnomAD v2:
17-39740322-T-TC
gnomAD v3:
17-41584070-T-TC
gnomAD v4:
17-41584070-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584070_41584071insC , CM000679.2:g.41584070_41584071insC | GRCh38 |
| NC_000017.10:g.39740322_39740323insC , CM000679.1:g.39740322_39740323insC | GRCh37 |
| NC_000017.9:g.36993848_36993849insC | NCBI36 |
| NG_008624.1:g.7825_7826insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-150_766-149insG MANE Select | ENSP00000167586.6:n.766-150_766-149insG | |
| ENST00000167586.6:c.766-150_766-149insG | ENSP00000167586.6:n.766-150_766-149insG | |
| ENST00000476662.1:n.216-150_216-149insG | ||
| NM_000526.4:c.766-150_766-149insG | NP_000517.2:n.766-150_766-149insG | |
| NM_000526.5:c.766-150_766-149insG MANE Select | NP_000517.3:n.766-150_766-149insG |