Linked Data
ClinVar Variation Id:
704609
ClinVar RCV Id:
RCV001414813
dbSNP Id:
rs374827814
ExAC:
16:69373149 G / A
gnomAD v2:
16-69373149-G-A
gnomAD v3:
16-69339246-G-A
gnomAD v4:
16-69339246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69339246G>A , CM000678.2:g.69339246G>A | GRCh38 |
| NC_000016.9:g.69373149G>A , CM000678.1:g.69373149G>A | GRCh37 |
| NC_000016.8:g.67930650G>A | NCBI36 |
| NG_009013.1:g.5378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.307C>T (COG8) MANE Select | ENSP00000305459.6:p.Leu103= | |
| ENST00000563364.3:n.1251G>A (NIP7) | ||
| ENST00000306875.8:c.307C>T (COG8) | ENSP00000305459.4:p.Leu103= | |
| ENST00000562081.2:c.307C>T (COG8) | ENSP00000455954.1:p.Leu103= | |
| ENST00000562595.5:c.248C>T (COG8) | ||
| ENST00000563634.1:c.3-2534C>T | ENSP00000454500.1:n.3-2534C>T | |
| ENST00000564737.1:c.467-2534C>T | ||
| ENST00000570293.5:c.317-2534C>T | ENSP00000464417.1:n.317-2534C>T | |
| ENST00000615447.1:c.261C>T (COG8) | ||
| NM_032382.4:c.307C>T (COG8) | NP_115758.3:p.Leu103= | |
| NM_001374871.1:c.307C>T (COG8) | NP_001361800.1:p.Leu103= | |
| NM_032382.5:c.307C>T (COG8) MANE Select | NP_115758.3:p.Leu103= | |
| NM_001379261.1:c.307C>T (COG8) | NP_001366190.1:p.Leu103= | |
| NM_001379262.1:c.307C>T (COG8) | NP_001366191.1:p.Leu103= | |
| NM_001379263.1:c.307C>T (COG8) | NP_001366192.1:p.Leu103= | |
| NM_001379264.1:c.307C>T (COG8) | NP_001366193.1:p.Leu103= | |
| NM_001379265.1:c.307C>T (COG8) | NP_001366194.1:p.Leu103= | |
| NM_001379266.1:c.307C>T (COG8) | NP_001366195.1:p.Leu103= |