Linked Data
ClinVar Variation Id:
515747
ClinVar RCV Id:
RCV000605155
dbSNP Id:
rs760358359
ExAC:
16:69373482 T / G
gnomAD v2:
16-69373482-T-G
gnomAD v3:
16-69339579-T-G
gnomAD v4:
16-69339579-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69339579T>G , CM000678.2:g.69339579T>G | GRCh38 |
| NC_000016.9:g.69373482T>G , CM000678.1:g.69373482T>G | GRCh37 |
| NC_000016.8:g.67930983T>G | NCBI36 |
| NG_009013.1:g.5045A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563364.3:n.1584T>G (NIP7) | ||
| ENST00000254940.9:c.-251T>G (NIP7) | ENSP00000254940.5:n.-251T>G | |
| ENST00000306875.8:c.-27A>C (COG8) | ENSP00000305459.4:n.-27A>C | |
| ENST00000562081.2:c.-27A>C (COG8) | ENSP00000455954.1:n.-27A>C | |
| ENST00000563634.1:c.3-2867A>C | ENSP00000454500.1:n.3-2867A>C | |
| ENST00000564737.1:c.467-2867A>C | ||
| ENST00000569637.6:c.-251T>G (NIP7) | ENSP00000463739.1:n.-251T>G | |
| ENST00000570293.5:c.317-2867A>C | ENSP00000464417.1:n.317-2867A>C | |
| NM_001199434.1:c.-251T>G (NIP7) | NP_001186363.1:n.-251T>G | |
| NM_016101.4:c.-251T>G (NIP7) | NP_057185.1:n.-251T>G | |
| NM_032382.4:c.-27A>C (COG8) | NP_115758.3:n.-27A>C |