Revel Score:
ENST00000259008 (MANE Select)
0.063
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003341 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003373 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683582C>T , CM000679.2:g.61683582C>T | GRCh38 |
| NC_000017.10:g.59760943C>T , CM000679.1:g.59760943C>T | GRCh37 |
| NC_000017.9:g.57115725C>T | NCBI36 |
| NG_007409.2:g.184978G>A , LRG_300:g.184978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2204G>A | ||
| ENST00000682453.1:c.3464G>A | ENSP00000506943.1:p.Gly1155Glu | |
| ENST00000682477.1:c.*2890G>A | ENSP00000507075.1:n.*2890G>A | |
| ENST00000682589.1:n.9341G>A | ||
| ENST00000682755.1:c.3242G>A | ENSP00000507660.1:p.Gly1081Glu | |
| ENST00000682989.1:c.*555G>A | ENSP00000507786.1:n.*555G>A | |
| ENST00000683039.1:c.3464G>A | ENSP00000508303.1:p.Gly1155Glu | |
| ENST00000683235.1:c.*879G>A | ENSP00000507646.1:n.*879G>A | |
| ENST00000683535.1:n.1594G>A | ||
| ENST00000684584.1:c.2627G>A | ENSP00000508044.1:p.Gly876Glu | |
| ENST00000684626.1:n.1710G>A | ||
| ENST00000684769.1:c.1654G>A | ENSP00000507691.1:n.1654G>A | |
| ENST00000259008.7:c.3464G>A MANE Select | ENSP00000259008.2:p.Gly1155Glu | |
| ENST00000259008.6:c.3464G>A | ENSP00000259008.2:p.Gly1155Glu | |
| NM_032043.2:c.3464G>A , LRG_300t1:c.3464G>A | NP_114432.2:p.Gly1155Glu | |
| XM_011525332.1:c.3524G>A | XP_011523634.1:p.Gly1175Glu | |
| XM_011525333.1:c.3524G>A | XP_011523635.1:p.Gly1175Glu | |
| XM_011525334.1:c.3524G>A | XP_011523636.1:p.Gly1175Glu | |
| XM_011525335.1:c.3464G>A | XP_011523637.1:p.Gly1155Glu | |
| XM_011525336.1:c.3404G>A | XP_011523638.1:p.Gly1135Glu | |
| XM_011525337.1:c.3323G>A | XP_011523639.1:p.Gly1108Glu | |
| XM_011525338.1:c.3041G>A | XP_011523640.1:p.Gly1014Glu | |
| XM_011525332.3:c.3524G>A | XP_011523634.1:p.Gly1175Glu | |
| XM_011525333.3:c.3524G>A | XP_011523635.1:p.Gly1175Glu | |
| XM_011525334.2:c.3524G>A | XP_011523636.1:p.Gly1175Glu | |
| XM_011525335.3:c.3464G>A | XP_011523637.1:p.Gly1155Glu | |
| XM_011525336.2:c.3404G>A | XP_011523638.1:p.Gly1135Glu | |
| XM_011525337.2:c.3323G>A | XP_011523639.1:p.Gly1108Glu | |
| XM_011525338.2:c.3041G>A | XP_011523640.1:p.Gly1014Glu | |
| XM_017025200.1:c.2981G>A | XP_016880689.1:p.Gly994Glu | |
| XM_017025201.1:c.2981G>A | XP_016880690.1:p.Gly994Glu | |
| XM_017025202.1:c.1610G>A | XP_016880691.1:p.Gly537Glu | |
| XM_017025203.1:c.1610G>A | XP_016880692.1:p.Gly537Glu | |
| NM_032043.3:c.3464G>A MANE Select | NP_114432.2:p.Gly1155Glu |