ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Revel Score:
ENST00000269305 (MANE Select)
0.547
ENST00000445888
0.547
ENST00000396473
0.547
ENST00000419024
0.547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7669628T>G , CM000679.2:g.7669628T>G | GRCh38 |
| NC_000017.10:g.7572946T>G , CM000679.1:g.7572946T>G | GRCh37 |
| NC_000017.9:g.7513671T>G | NCBI36 |
| NG_017013.2:g.22923A>C , LRG_321:g.22923A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.1163A>C | ENSP00000426252.2:p.Glu388Ala | |
| ENST00000508793.6:c.1163A>C | ENSP00000424104.2:p.Glu388Ala | |
| ENST00000509690.6:c.767A>C | ENSP00000425104.2:p.Glu256Ala | |
| ENST00000514944.6:c.884A>C | ENSP00000423862.2:p.Glu295Ala | |
| ENST00000604348.6:c.1142A>C | ENSP00000473895.2:p.Glu381Ala | |
| ENST00000269305.9:c.1163A>C MANE Select | ENSP00000269305.4:p.Glu388Ala | |
| ENST00000269305.8:c.1163A>C | ENSP00000269305.4:p.Glu388Ala | |
| ENST00000359597.8:c.994-3384A>C | ENSP00000352610.4:n.994-3384A>C | |
| ENST00000413465.6:c.782+4553A>C | ENSP00000410739.2:n.782+4553A>C | |
| ENST00000420246.6:c.*270A>C | ENSP00000391127.2:n.*270A>C | |
| ENST00000445888.6:c.1163A>C | ENSP00000391478.2:p.Glu388Ala | |
| ENST00000455263.6:c.*182A>C | ENSP00000398846.2:n.*182A>C | |
| ENST00000504290.5:c.*182A>C | ENSP00000484409.1:n.*182A>C | |
| ENST00000504937.5:c.767A>C | ENSP00000481179.1:p.Glu256Ala | |
| ENST00000510385.5:c.*270A>C | ENSP00000478499.1:n.*270A>C | |
| ENST00000576024.1:c.116A>C | ||
| ENST00000610292.4:c.1046A>C | ENSP00000478219.1:p.Glu349Ala | |
| ENST00000610538.4:c.*182A>C | ENSP00000480868.1:n.*182A>C | |
| ENST00000610623.4:c.*182A>C | ENSP00000477531.1:n.*182A>C | |
| ENST00000615910.4:c.1130A>C | ENSP00000482903.1:p.Glu377Ala | |
| ENST00000617185.4:c.*270A>C | ENSP00000482258.1:n.*270A>C | |
| ENST00000618944.4:c.*270A>C | ENSP00000481401.1:n.*270A>C | |
| ENST00000619186.4:c.686A>C | ENSP00000484375.1:p.Glu229Ala | |
| ENST00000619485.4:c.1046A>C | ENSP00000482537.1:p.Glu349Ala | |
| ENST00000620739.4:c.1046A>C | ENSP00000481638.1:p.Glu349Ala | |
| ENST00000622645.4:c.*270A>C | ENSP00000482222.1:n.*270A>C | |
| ENST00000635293.1:c.983+981A>C | ENSP00000488924.1:n.983+981A>C | |
| NM_000546.5:c.1163A>C , LRG_321t1:c.1163A>C | NP_000537.3:p.Glu388Ala | |
| NM_001126112.2:c.1163A>C , LRG_321t2:c.1163A>C | NP_001119584.1:p.Glu388Ala | |
| NM_001126113.2:c.*182A>C , LRG_321t4:c.*182A>C | NP_001119585.1:n.*182A>C | |
| NM_001126114.2:c.*270A>C , LRG_321t3:c.*270A>C | NP_001119586.1:n.*270A>C | |
| NM_001126115.1:c.767A>C , LRG_321t5:c.767A>C | NP_001119587.1:p.Glu256Ala | |
| NM_001126116.1:c.*270A>C , LRG_321t6:c.*270A>C | NP_001119588.1:n.*270A>C | |
| NM_001126117.1:c.*182A>C , LRG_321t7:c.*182A>C | NP_001119589.1:n.*182A>C | |
| NM_001126118.1:c.1046A>C , LRG_321t8:c.1046A>C | NP_001119590.1:p.Glu349Ala | |
| NM_001276695.1:c.*182A>C | NP_001263624.1:n.*182A>C | |
| NM_001276696.1:c.*270A>C | NP_001263625.1:n.*270A>C | |
| NM_001276697.1:c.686A>C | NP_001263626.1:p.Glu229Ala | |
| NM_001276698.1:c.*270A>C | NP_001263627.1:n.*270A>C | |
| NM_001276699.1:c.*182A>C | NP_001263628.1:n.*182A>C | |
| NM_001276760.1:c.1046A>C | NP_001263689.1:p.Glu349Ala | |
| NM_001276761.1:c.1046A>C | NP_001263690.1:p.Glu349Ala | |
| NM_001276695.2:c.*182A>C | NP_001263624.1:n.*182A>C | |
| NM_001276696.2:c.*270A>C | NP_001263625.1:n.*270A>C | |
| NM_001276697.2:c.686A>C | NP_001263626.1:p.Glu229Ala | |
| NM_001276698.2:c.*270A>C | NP_001263627.1:n.*270A>C | |
| NM_001276699.2:c.*182A>C | NP_001263628.1:n.*182A>C | |
| NM_001276760.2:c.1046A>C | NP_001263689.1:p.Glu349Ala | |
| NM_001276761.2:c.1046A>C | NP_001263690.1:p.Glu349Ala | |
| NM_000546.6:c.1163A>C MANE Select | NP_000537.3:p.Glu388Ala | |
| NM_001126112.3:c.1163A>C | NP_001119584.1:p.Glu388Ala | |
| NM_001126113.3:c.*182A>C | NP_001119585.1:n.*182A>C | |
| NM_001126114.3:c.*270A>C | NP_001119586.1:n.*270A>C | |
| NM_001126115.2:c.767A>C | NP_001119587.1:p.Glu256Ala | |
| NM_001126116.2:c.*270A>C | NP_001119588.1:n.*270A>C | |
| NM_001126117.2:c.*182A>C | NP_001119589.1:n.*182A>C | |
| NM_001126118.2:c.1046A>C | NP_001119590.1:p.Glu349Ala | |
| NM_001276695.3:c.*182A>C | NP_001263624.1:n.*182A>C | |
| NM_001276696.3:c.*270A>C | NP_001263625.1:n.*270A>C | |
| NM_001276697.3:c.686A>C | NP_001263626.1:p.Glu229Ala | |
| NM_001276698.3:c.*270A>C | NP_001263627.1:n.*270A>C | |
| NM_001276699.3:c.*182A>C | NP_001263628.1:n.*182A>C | |
| NM_001276760.3:c.1046A>C | NP_001263689.1:p.Glu349Ala | |
| NM_001276761.3:c.1046A>C | NP_001263690.1:p.Glu349Ala |