ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017072 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00017388 (NFE)
Revel Score:
ENST00000230771 (MANE Select)
0.306
ENST00000509299
0.306
ENST00000503873
0.306
ENST00000435019
0.306
ENST00000437649
0.306
ENST00000432671
0.306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140693654A>G , CM000667.2:g.140693654A>G | GRCh38 |
| NC_000005.9:g.140073239A>G , CM000667.1:g.140073239A>G | GRCh37 |
| NC_000005.8:g.140053423A>G | NCBI36 |
| NG_021415.1:g.7222A>G | |
| NG_032158.1:g.2733T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.172A>G MANE Select | ENSP00000230771.3:p.Lys58Glu | |
| ENST00000503873.6:c.172A>G | ENSP00000424516.2:p.Lys58Glu | |
| ENST00000509299.6:c.-39A>G | ENSP00000425695.2:n.-39A>G | |
| ENST00000520095.6:c.272A>G | ENSP00000429220.1:p.Gln91Arg | |
| ENST00000642452.1:c.138A>G | ||
| ENST00000642752.1:c.172A>G | ENSP00000493630.1:p.Lys58Glu | |
| ENST00000642970.1:c.-39A>G | ENSP00000496011.1:n.-39A>G | |
| ENST00000643996.1:c.-39A>G | ENSP00000495350.1:n.-39A>G | |
| ENST00000645065.1:c.190A>G | ENSP00000493571.1:p.Lys64Glu | |
| ENST00000645749.1:c.172A>G | ENSP00000494296.1:p.Lys58Glu | |
| ENST00000646468.1:c.190A>G | ENSP00000494965.1:p.Lys64Glu | |
| ENST00000647484.1:c.-39A>G | ENSP00000494140.1:n.-39A>G | |
| ENST00000230771.7:c.172A>G | ENSP00000230771.3:p.Lys58Glu | |
| ENST00000448069.2:c.108+1898A>G | ENSP00000407105.2:n.108+1898A>G | |
| ENST00000502303.5:n.255A>G | ||
| ENST00000503873.5:c.190A>G | ENSP00000424516.1:p.Lys64Glu | |
| ENST00000506318.1:n.519A>G | ||
| ENST00000508522.5:c.109-281A>G | ENSP00000423616.1:n.109-281A>G | |
| ENST00000509299.5:c.190A>G | ENSP00000425695.1:p.Lys64Glu | |
| ENST00000510104.5:c.272A>G | ENSP00000423530.1:p.Gln91Arg | |
| ENST00000511913.5:n.348A>G | ||
| ENST00000513688.1:n.179A>G | ||
| ENST00000513912.1:n.407A>G | ||
| ENST00000520095.5:c.272A>G | ENSP00000429220.1:p.Gln91Arg | |
| NM_001278731.1:c.109-281A>G | NP_001265660.1:n.109-281A>G | |
| NM_001278732.1:c.-39A>G | NP_001265661.1:n.-39A>G | |
| NM_012208.3:c.172A>G | NP_036340.1:p.Lys58Glu | |
| XM_011537619.1:c.190A>G | XP_011535921.1:p.Lys64Glu | |
| XM_011537620.1:c.190A>G | XP_011535922.1:p.Lys64Glu | |
| NM_001363535.1:c.190A>G | NP_001350464.1:p.Lys64Glu | |
| NM_001363536.1:c.-39A>G | NP_001350465.1:n.-39A>G | |
| XM_017009288.1:c.-39A>G | XP_016864777.1:n.-39A>G | |
| XM_017009289.1:c.-39A>G | XP_016864778.1:n.-39A>G | |
| XM_017009290.2:c.-563A>G | XP_016864779.1:n.-563A>G | |
| XM_017009291.1:c.-563A>G | XP_016864780.1:n.-563A>G | |
| XM_017009292.1:c.-563A>G | XP_016864781.1:n.-563A>G | |
| NM_012208.4:c.172A>G MANE Select | NP_036340.1:p.Lys58Glu | |
| NM_001278731.2:c.109-281A>G | NP_001265660.1:n.109-281A>G | |
| NM_001278732.2:c.-39A>G | NP_001265661.1:n.-39A>G | |
| NM_001363535.2:c.190A>G | NP_001350464.1:p.Lys64Glu | |
| NM_001363536.2:c.-39A>G | NP_001350465.1:n.-39A>G |