ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (EAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16890535G>A , CM000672.2:g.16890535G>A | GRCh38 |
| NC_000010.10:g.16932534G>A , CM000672.1:g.16932534G>A | GRCh37 |
| NC_000010.9:g.16972540G>A | NCBI36 |
| NG_008967.1:g.244283C>T , LRG_540:g.244283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.8599-8C>T MANE Select | ENSP00000367064.4:n.8599-8C>T | |
| ENST00000377833.8:c.8599-8C>T | ENSP00000367064.4:n.8599-8C>T | |
| NM_001081.3:c.8599-8C>T , LRG_540t1:c.8599-8C>T | NP_001072.2:n.8599-8C>T | |
| XM_011519709.1:c.4585-8C>T | XP_011518011.1:n.4585-8C>T | |
| XM_011519710.1:c.4561-8C>T | XP_011518012.1:n.4561-8C>T | |
| XM_011519711.1:c.4441-8C>T | XP_011518013.1:n.4441-8C>T | |
| XM_011519709.2:c.4585-8C>T | XP_011518011.1:n.4585-8C>T | |
| XM_011519710.2:c.4561-8C>T | XP_011518012.1:n.4561-8C>T | |
| XM_011519711.3:c.4441-8C>T | XP_011518013.1:n.4441-8C>T | |
| NM_001081.4:c.8599-8C>T MANE Select | NP_001072.2:n.8599-8C>T |