ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007734 (AMR)
Exomes Max Group AF
0.00010436 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.158926234G>A , CM000669.2:g.158926234G>A | GRCh38 |
| NC_000007.13:g.158718925G>A , CM000669.1:g.158718925G>A | GRCh37 |
| NC_000007.12:g.158411686G>A | NCBI36 |
| NG_034051.1:g.74657G>A | |
| NG_034051.2:g.91990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407559.8:c.2305G>A MANE Select | ENSP00000384290.3:p.Glu769Lys | |
| ENST00000407559.7:c.2305G>A | ENSP00000384290.3:p.Glu769Lys | |
| ENST00000444851.5:c.1463G>A | ENSP00000392608.1:p.Arg488Lys | |
| ENST00000467220.1:n.4104G>A | ||
| NM_018051.4:c.2305G>A | NP_060521.4:p.Glu769Lys | |
| XM_005249549.1:c.1741G>A | XP_005249606.1:p.Glu581Lys | |
| XM_005249550.1:c.844G>A | XP_005249607.1:p.Glu282Lys | |
| XM_006716041.1:c.2314G>A | XP_006716104.1:p.Glu772Lys | |
| XM_011516367.1:c.2314G>A | XP_011514669.1:p.Glu772Lys | |
| XM_011516368.1:c.2314G>A | XP_011514670.1:p.Glu772Lys | |
| XM_011516369.1:c.2176G>A | XP_011514671.1:p.Glu726Lys | |
| XR_242045.1:n.2457G>A | ||
| XR_428179.1:n.2468G>A | ||
| XR_927485.1:n.2295G>A | ||
| XR_927486.1:n.2286G>A | ||
| NM_001350914.1:c.2167G>A | NP_001337843.1:p.Glu723Lys | |
| NM_001350915.1:c.1732G>A | NP_001337844.1:p.Glu578Lys | |
| NM_001350916.1:c.844G>A | NP_001337845.1:p.Glu282Lys | |
| NM_001350917.1:c.1057G>A | NP_001337846.1:p.Glu353Lys | |
| NM_001350918.1:c.1057G>A | NP_001337847.1:p.Glu353Lys | |
| XM_006716041.2:c.2314G>A | XP_006716104.1:p.Glu772Lys | |
| XM_011516367.2:c.2314G>A | XP_011514669.1:p.Glu772Lys | |
| XM_011516368.2:c.2314G>A | XP_011514670.1:p.Glu772Lys | |
| XM_011516369.2:c.2176G>A | XP_011514671.1:p.Glu726Lys | |
| XM_017012381.2:c.2176G>A | XP_016867870.1:p.Glu726Lys | |
| XM_017012382.1:c.2305G>A | XP_016867871.1:p.Glu769Lys | |
| XM_017012388.1:c.844G>A | XP_016867877.1:p.Glu282Lys | |
| XR_001744823.1:n.2487G>A | ||
| XR_001744824.1:n.2487G>A | ||
| XR_001744825.1:n.2487G>A | ||
| XR_001744826.1:n.2487G>A | ||
| XR_001744827.1:n.2476G>A | ||
| XR_001744828.1:n.2314G>A | ||
| XR_002956461.1:n.2478G>A | ||
| XR_242045.2:n.2476G>A | ||
| XR_428179.2:n.2487G>A | ||
| XR_927486.2:n.2305G>A | ||
| NM_018051.5:c.2305G>A MANE Select | NP_060521.4:p.Glu769Lys | |
| NM_001350915.2:c.1732G>A | NP_001337844.1:p.Glu578Lys | |
| NM_001350916.2:c.844G>A | NP_001337845.1:p.Glu282Lys | |
| NM_001350917.2:c.1057G>A | NP_001337846.1:p.Glu353Lys | |
| NM_001350918.2:c.1057G>A | NP_001337847.1:p.Glu353Lys | |
| NM_001350914.2:c.2167G>A | NP_001337843.1:p.Glu723Lys |