gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15224652 (AMR)
Genomes Max Group AF
0.15224652 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10677867G>A , CM000670.2:g.10677867G>A | GRCh38 |
| NC_000008.10:g.10535377G>A , CM000670.1:g.10535377G>A | GRCh37 |
| NC_000008.9:g.10572787G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304519.10:c.241+3029G>A (C8orf74) MANE Select | ENSP00000307129.5:n.241+3029G>A | |
| ENST00000304519.9:c.241+3029G>A (C8orf74) | ENSP00000307129.5:n.241+3029G>A | |
| ENST00000329335.3:n.231+34090C>T (RP1L1) | ||
| ENST00000517414.5:n.254+3029G>A (C8orf74) | ||
| ENST00000521818.1:c.236+3029G>A (C8orf74) | ||
| ENST00000523289.5:c.241+3029G>A (C8orf74) | ENSP00000430613.1:n.241+3029G>A | |
| ENST00000523723.5:c.241+3029G>A (C8orf74) | ENSP00000432993.1:n.241+3029G>A | |
| ENST00000524025.5:n.425-2028G>A (C8orf74) | ||
| NM_001040032.1:c.241+3029G>A (C8orf74) | NP_001035121.1:n.241+3029G>A | |
| XM_011543816.1:c.262+3029G>A (C8orf74) | XP_011542118.1:n.262+3029G>A | |
| XM_024447091.1:c.346+3029G>A (C8orf74) | XP_024302859.1:n.346+3029G>A | |
| NM_001040032.2:c.241+3029G>A (C8orf74) MANE Select | NP_001035121.2:n.241+3029G>A |