Revel Score:
ENST00000392665
0.936
ENST00000392666 (MANE Select)
0.936
ENST00000440599
0.936
ENST00000324036
0.936
ENST00000392664
0.936
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839801C>T , CM000673.2:g.128839801C>T | GRCh38 |
| NC_000011.9:g.128709696C>T , CM000673.1:g.128709696C>T | GRCh37 |
| NC_000011.8:g.128214906C>T | NCBI36 |
| NG_009379.1:g.32573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.443G>A MANE Select | ENSP00000376434.1:p.Gly148Glu | |
| ENST00000324036.7:c.443G>A | ENSP00000316233.3:p.Gly148Glu | |
| ENST00000392664.2:c.500G>A | ENSP00000376432.2:p.Gly167Glu | |
| ENST00000392665.6:c.443G>A | ENSP00000376433.2:p.Gly148Glu | |
| ENST00000392666.5:c.443G>A | ENSP00000376434.1:p.Gly148Glu | |
| ENST00000440599.6:c.443G>A | ENSP00000406320.2:p.Gly148Glu | |
| NM_000220.4:c.500G>A | NP_000211.1:p.Gly167Glu | |
| NM_153764.2:c.443G>A | NP_722448.1:p.Gly148Glu | |
| NM_153765.2:c.494G>A | NP_722449.3:p.Gly165Glu | |
| NM_153766.2:c.443G>A | NP_722450.1:p.Gly148Glu | |
| NM_153767.3:c.443G>A | NP_722451.1:p.Gly148Glu | |
| NM_000220.6:c.500G>A | NP_000211.1:p.Gly167Glu | |
| NM_153764.3:c.443G>A | NP_722448.1:p.Gly148Glu | |
| NM_153765.3:c.494G>A | NP_722449.3:p.Gly165Glu | |
| NM_153766.3:c.443G>A MANE Select | NP_722450.1:p.Gly148Glu | |
| NM_153767.4:c.443G>A | NP_722451.1:p.Gly148Glu |