ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00324691 (NFE)
Genomes Max Group AF
0.00266217 (NFE)
Exomes Max Group AF
0.00326397 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152376557G>C , CM000668.2:g.152376557G>C | GRCh38 |
| NC_000006.11:g.152697692G>C , CM000668.1:g.152697692G>C | GRCh37 |
| NC_000006.10:g.152739385G>C | NCBI36 |
| NG_012855.1:g.265843C>G | |
| NG_012855.2:g.265843C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454018.7:c.499C>G | ENSP00000390858.4:p.Leu167Val | |
| ENST00000367255.10:c.9148C>G MANE Select | ENSP00000356224.5:p.Leu3050Val | |
| ENST00000423061.6:c.9169C>G | ENSP00000396024.1:p.Leu3057Val | |
| ENST00000341594.9:c.9214C>G | ENSP00000341887.6:p.Leu3072Val | |
| ENST00000367255.9:c.9148C>G | ENSP00000356224.5:p.Leu3050Val | |
| ENST00000423061.5:c.9169C>G | ENSP00000396024.1:p.Leu3057Val | |
| ENST00000454018.6:c.496C>G | ENSP00000390858.3:p.Leu166Val | |
| ENST00000461872.6:n.9583C>G | ||
| ENST00000471834.1:n.354C>G | ||
| NM_033071.3:c.9169C>G | NP_149062.1:p.Leu3057Val | |
| NM_182961.3:c.9148C>G | NP_892006.3:p.Leu3050Val | |
| XM_006715407.1:c.9169C>G | XP_006715470.1:p.Leu3057Val | |
| XM_006715408.1:c.9169C>G | XP_006715471.1:p.Leu3057Val | |
| XM_006715409.1:c.9148C>G | XP_006715472.1:p.Leu3050Val | |
| XM_006715410.1:c.9169C>G | XP_006715473.1:p.Leu3057Val | |
| XM_006715411.1:c.9118C>G | XP_006715474.1:p.Leu3040Val | |
| XM_006715412.1:c.9169C>G | XP_006715475.1:p.Leu3057Val | |
| XM_006715413.1:c.9169C>G | XP_006715476.1:p.Leu3057Val | |
| XM_006715414.1:c.9097C>G | XP_006715477.1:p.Leu3033Val | |
| XM_006715415.1:c.9169C>G | XP_006715478.1:p.Leu3057Val | |
| XM_006715416.1:c.9169C>G | XP_006715479.1:p.Leu3057Val | |
| XM_006715417.1:c.9169C>G | XP_006715480.1:p.Leu3057Val | |
| XM_006715420.1:c.9169C>G | XP_006715483.1:p.Leu3057Val | |
| XM_006715421.1:c.9169C>G | XP_006715484.1:p.Leu3057Val | |
| XM_006715422.1:c.9010C>G | XP_006715485.1:p.Leu3004Val | |
| XM_006715423.1:c.9169C>G | XP_006715486.1:p.Leu3057Val | |
| XM_006715424.1:c.9169C>G | XP_006715487.1:p.Leu3057Val | |
| XM_006715425.1:c.9169C>G | XP_006715488.1:p.Leu3057Val | |
| XM_011535641.1:c.9169C>G | XP_011533943.1:p.Leu3057Val | |
| XM_011535642.1:c.9169C>G | XP_011533944.1:p.Leu3057Val | |
| XM_011535643.1:c.9004C>G | XP_011533945.1:p.Leu3002Val | |
| XM_011535644.1:c.7444C>G | XP_011533946.1:p.Leu2482Val | |
| XM_011535645.1:c.6937C>G | XP_011533947.1:p.Leu2313Val | |
| XM_011535646.1:c.9169C>G | XP_011533948.1:p.Leu3057Val | |
| XM_011535647.1:c.2404C>G | XP_011533949.1:p.Leu802Val | |
| XM_006715408.2:c.9169C>G | XP_006715471.1:p.Leu3057Val | |
| XM_006715410.2:c.9169C>G | XP_006715473.1:p.Leu3057Val | |
| XM_006715412.2:c.9169C>G | XP_006715475.1:p.Leu3057Val | |
| XM_006715413.2:c.9169C>G | XP_006715476.1:p.Leu3057Val | |
| XM_006715415.2:c.9169C>G | XP_006715478.1:p.Leu3057Val | |
| XM_006715416.2:c.9169C>G | XP_006715479.1:p.Leu3057Val | |
| XM_006715417.2:c.9169C>G | XP_006715480.1:p.Leu3057Val | |
| XM_006715420.2:c.9169C>G | XP_006715483.1:p.Leu3057Val | |
| XM_006715421.2:c.9169C>G | XP_006715484.1:p.Leu3057Val | |
| XM_006715423.2:c.9169C>G | XP_006715486.1:p.Leu3057Val | |
| XM_006715424.2:c.9169C>G | XP_006715487.1:p.Leu3057Val | |
| XM_006715425.2:c.9169C>G | XP_006715488.1:p.Leu3057Val | |
| XM_011535641.2:c.9169C>G | XP_011533943.1:p.Leu3057Val | |
| XM_011535642.2:c.9169C>G | XP_011533944.1:p.Leu3057Val | |
| XM_011535645.2:c.6937C>G | XP_011533947.1:p.Leu2313Val | |
| XM_017010608.1:c.9169C>G | XP_016866097.1:p.Leu3057Val | |
| XM_017010609.1:c.9169C>G | XP_016866098.1:p.Leu3057Val | |
| XM_017010610.1:c.9148C>G | XP_016866099.1:p.Leu3050Val | |
| XM_017010611.2:c.9142C>G | XP_016866100.1:p.Leu3048Val | |
| XM_017010612.1:c.9091C>G | XP_016866101.1:p.Leu3031Val | |
| XM_017010613.1:c.9169C>G | XP_016866102.1:p.Leu3057Val | |
| XM_017010614.1:c.9169C>G | XP_016866103.1:p.Leu3057Val | |
| XM_017010615.1:c.9169C>G | XP_016866104.1:p.Leu3057Val | |
| XM_017010616.1:c.9169C>G | XP_016866105.1:p.Leu3057Val | |
| XM_017010617.1:c.9169C>G | XP_016866106.1:p.Leu3057Val | |
| XM_017010618.1:c.9169C>G | XP_016866107.1:p.Leu3057Val | |
| XM_017010619.1:c.7444C>G | XP_016866108.1:p.Leu2482Val | |
| XR_001743287.1:n.9652C>G | ||
| NM_182961.4:c.9148C>G MANE Select | NP_892006.3:p.Leu3050Val | |
| NM_033071.5:c.9169C>G | NP_149062.2:p.Leu3057Val |