Revel Score:
ENST00000378802 (MANE Select)
0.073
ENST00000274118
0.073
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06337771 (AFR)
Genomes Max Group AF
0.06185136 (AFR)
Exomes Max Group AF
0.06387563 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186201178G>A , CM000666.2:g.186201178G>A | GRCh38 |
| NC_000004.11:g.187122332G>A , CM000666.1:g.187122332G>A | GRCh37 |
| NC_000004.10:g.187359326G>A | NCBI36 |
| NG_007965.1:g.14659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.823G>A MANE Select | ENSP00000368079.4:p.Glu275Lys | |
| ENST00000378802.4:c.823G>A | ENSP00000368079.4:p.Glu275Lys | |
| ENST00000507209.5:n.1664G>A | ||
| NM_207352.3:c.823G>A | NP_997235.3:p.Glu275Lys | |
| XM_005262935.2:c.823G>A | XP_005262992.1:p.Glu275Lys | |
| XM_006714184.2:c.427G>A | XP_006714247.1:p.Glu143Lys | |
| XM_005262935.4:c.823G>A | XP_005262992.1:p.Glu275Lys | |
| XM_017008037.1:c.427G>A | XP_016863526.1:p.Glu143Lys | |
| NM_207352.4:c.823G>A MANE Select | NP_997235.3:p.Glu275Lys |