gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001039 (NFE)
Exomes Max Group AF
0.00001021 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614713G>A , CM000669.2:g.117614713G>A | GRCh38 |
| NC_000007.13:g.117254767G>A , CM000669.1:g.117254767G>A | GRCh37 |
| NC_000007.12:g.117042003G>A | NCBI36 |
| NG_016465.4:g.153930G>A , LRG_663:g.153930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3468G>A | ENSP00000497673.2:p.Leu1156= | |
| ENST00000647978.2:c.*3182G>A | ENSP00000497658.1:n.*3182G>A | |
| ENST00000649781.2:c.3285G>A | ENSP00000497203.1:p.Leu1095= | |
| ENST00000685018.2:c.3468G>A | ENSP00000510194.2:p.Leu1156= | |
| ENST00000687278.2:c.3468G>A | ENSP00000509593.2:p.Leu1156= | |
| ENST00000699585.1:c.3468G>A | ENSP00000514456.1:p.Leu1156= | |
| ENST00000699598.1:c.3468G>A | ENSP00000514467.1:p.Leu1156= | |
| ENST00000699599.1:c.3468G>A | ENSP00000514468.1:p.Leu1156= | |
| ENST00000699600.1:c.3468G>A | ENSP00000514469.1:p.Leu1156= | |
| ENST00000699601.1:c.*1843G>A | ENSP00000514470.1:n.*1843G>A | |
| ENST00000699602.1:c.3462G>A | ENSP00000514471.1:p.Leu1154= | |
| ENST00000699604.1:c.*3292G>A | ENSP00000514472.1:n.*3292G>A | |
| ENST00000699605.1:c.3042G>A | ENSP00000514473.1:p.Leu1014= | |
| ENST00000685018.1:c.216G>A | ENSP00000510194.1:p.Leu72= | |
| ENST00000687278.1:c.1059G>A | ENSP00000509593.1:p.Leu353= | |
| ENST00000689011.1:c.50G>A | ||
| ENST00000003084.11:c.3468G>A MANE Select | ENSP00000003084.6:p.Leu1156= | |
| ENST00000647720.1:c.1118G>A | ||
| ENST00000648260.1:c.2250G>A | ENSP00000497957.1:p.Leu750= | |
| ENST00000649406.1:c.3285G>A | ENSP00000497965.1:p.Leu1095= | |
| ENST00000649781.1:c.3285G>A | ENSP00000497203.1:p.Leu1095= | |
| ENST00000003084.10:c.3468G>A | ENSP00000003084.6:p.Leu1156= | |
| ENST00000426809.5:c.3378G>A | ENSP00000389119.1:p.Leu1126= | |
| ENST00000468795.1:c.293G>A | ||
| NM_000492.3:c.3468G>A , LRG_663t1:c.3468G>A | NP_000483.3:p.Leu1156= | |
| XM_011515751.1:c.3558G>A | XP_011514053.1:p.Leu1186= | |
| XM_011515752.1:c.3558G>A | XP_011514054.1:p.Leu1186= | |
| XM_011515753.1:c.3225G>A | XP_011514055.1:p.Leu1075= | |
| XM_011515754.1:c.3225G>A | XP_011514056.1:p.Leu1075= | |
| NM_000492.4:c.3468G>A MANE Select | NP_000483.3:p.Leu1156= |