ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00061346 (AFR)
Genomes Max Group AF
0.00051899 (AFR)
Exomes Max Group AF
0.00059528 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31154674G>A , CM000670.2:g.31154674G>A | GRCh38 |
| NC_000008.10:g.31012190G>A , CM000670.1:g.31012190G>A | GRCh37 |
| NC_000008.9:g.31131732G>A | NCBI36 |
| NG_008870.1:g.126413G>A , LRG_524:g.126413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3738G>A MANE Select | ENSP00000298139.5:p.Leu1246= | |
| ENST00000650667.1:c.*3352G>A | ENSP00000498593.1:n.*3352G>A | |
| ENST00000298139.5:c.3738G>A | ENSP00000298139.5:p.Leu1246= | |
| ENST00000521620.5:n.2371G>A | ||
| NM_000553.4:c.3738G>A , LRG_524t1:c.3738G>A | NP_000544.2:p.Leu1246= | |
| XM_011544639.1:c.3657G>A | XP_011542941.1:p.Leu1219= | |
| XM_011544640.1:c.2139G>A | XP_011542942.1:p.Leu713= | |
| XR_949470.1:n.4011G>A | ||
| XR_949471.1:n.4011G>A | ||
| XR_949472.1:n.4011G>A | ||
| XR_949643.1:n.457-6009C>T | ||
| XR_949644.1:n.381-6009C>T | ||
| XR_949647.1:n.1070-6009C>T | ||
| XR_949648.1:n.972-6009C>T | ||
| NM_000553.5:c.3738G>A | NP_000544.2:p.Leu1246= | |
| XM_011544639.3:c.3657G>A | XP_011542941.1:p.Leu1219= | |
| XM_024447265.1:c.3528G>A | XP_024303033.1:p.Leu1176= | |
| XR_949470.3:n.4039G>A | ||
| XR_949471.3:n.4039G>A | ||
| XR_949472.3:n.4039G>A | ||
| NM_000553.6:c.3738G>A MANE Select | NP_000544.2:p.Leu1246= |