ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00372815 (AFR)
Genomes Max Group AF
0.00323039 (AFR)
Exomes Max Group AF
0.00400658 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16933244C>G , CM000672.2:g.16933244C>G | GRCh38 |
| NC_000010.10:g.16975243C>G , CM000672.1:g.16975243C>G | GRCh37 |
| NC_000010.9:g.17015249C>G | NCBI36 |
| NG_008967.1:g.201574G>C , LRG_540:g.201574G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.5967G>C MANE Select | ENSP00000367064.4:p.Val1989= | |
| ENST00000377833.8:c.5967G>C | ENSP00000367064.4:p.Val1989= | |
| NM_001081.3:c.5967G>C , LRG_540t1:c.5967G>C | NP_001072.2:p.Val1989= | |
| XM_011519708.1:c.5967G>C | XP_011518010.1:p.Val1989= | |
| XM_011519709.1:c.1953G>C | XP_011518011.1:p.Val651= | |
| XM_011519710.1:c.1929G>C | XP_011518012.1:p.Val643= | |
| XM_011519711.1:c.1809G>C | XP_011518013.1:p.Val603= | |
| XM_011519708.2:c.5967G>C | XP_011518010.1:p.Val1989= | |
| XM_011519709.2:c.1953G>C | XP_011518011.1:p.Val651= | |
| XM_011519710.2:c.1929G>C | XP_011518012.1:p.Val643= | |
| XM_011519711.3:c.1809G>C | XP_011518013.1:p.Val603= | |
| NM_001081.4:c.5967G>C MANE Select | NP_001072.2:p.Val1989= |