Linked Data
dbSNP Id:
rs1567866875
gnomAD v2:
17-76219531-A-G
gnomAD v3:
17-78223450-A-G
gnomAD v4:
17-78223450-A-G
MyVariant Identifiers:
chr17:g.76219531_76219534delinsGTTC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223450A>G , CM000679.2:g.78223450A>G | GRCh38 |
| NC_000017.10:g.76219531A>G , CM000679.1:g.76219531A>G | GRCh37 |
| NC_000017.9:g.73731126A>G | NCBI36 |
| NG_029069.1:g.14255A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.340-15A>G MANE Select | ENSP00000324180.4:n.340-15A>G | |
| ENST00000301633.8:c.409-15A>G | ENSP00000301633.3:n.409-15A>G | |
| ENST00000350051.7:c.340-15A>G | ENSP00000324180.4:n.340-15A>G | |
| ENST00000374948.6:c.222-15A>G | ENSP00000364086.1:n.222-15A>G | |
| ENST00000589892.1:n.356-15A>G | ||
| ENST00000590925.6:c.*142-15A>G | ENSP00000467336.1:n.*142-15A>G | |
| NM_001012270.1:c.222-15A>G | NP_001012270.1:n.222-15A>G | |
| NM_001012271.1:c.409-15A>G | NP_001012271.1:n.409-15A>G | |
| NM_001168.2:c.340-15A>G | NP_001159.2:n.340-15A>G | |
| XR_243654.3:n.542-15A>G | ||
| XR_934452.1:n.611-15A>G | ||
| XR_243654.5:n.542-15A>G | ||
| XR_934452.3:n.611-15A>G | ||
| NM_001168.3:c.340-15A>G MANE Select | NP_001159.2:n.340-15A>G | |
| NM_001012270.2:c.222-15A>G | NP_001012270.1:n.222-15A>G | |
| NM_001012271.2:c.409-15A>G | NP_001012271.1:n.409-15A>G |