ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094639 (EAS)
Genomes Max Group AF
0.00037984 (EAS)
Exomes Max Group AF
0.00095912 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16851301G>A , CM000672.2:g.16851301G>A | GRCh38 |
| NC_000010.10:g.16893300G>A , CM000672.1:g.16893300G>A | GRCh37 |
| NC_000010.9:g.16933306G>A | NCBI36 |
| NG_008967.1:g.283517C>T , LRG_540:g.283517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.9597C>T MANE Select | ENSP00000367064.4:p.Leu3199= | |
| ENST00000649135.1:n.192C>T | ||
| ENST00000377833.8:c.9597C>T | ENSP00000367064.4:p.Leu3199= | |
| NM_001081.3:c.9597C>T , LRG_540t1:c.9597C>T | NP_001072.2:p.Leu3199= | |
| XM_011519709.1:c.5583C>T | XP_011518011.1:p.Leu1861= | |
| XM_011519710.1:c.5559C>T | XP_011518012.1:p.Leu1853= | |
| XM_011519711.1:c.5439C>T | XP_011518013.1:p.Leu1813= | |
| XM_011519709.2:c.5583C>T | XP_011518011.1:p.Leu1861= | |
| XM_011519710.2:c.5559C>T | XP_011518012.1:p.Leu1853= | |
| XM_011519711.3:c.5439C>T | XP_011518013.1:p.Leu1813= | |
| NM_001081.4:c.9597C>T MANE Select | NP_001072.2:p.Leu3199= |