Revel Score:
ENST00000266126 (MANE Select)
0.969
ENST00000554748
0.969
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007493 (NFE)
Genomes Max Group AF
0.00007907 (NFE)
Exomes Max Group AF
0.00007137 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005906A>G , CM000676.2:g.75005906A>G | GRCh38 |
| NC_000014.8:g.75472609A>G , CM000676.1:g.75472609A>G | GRCh37 |
| NC_000014.7:g.74542362A>G | NCBI36 |
| NG_013333.1:g.7998A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.638A>G MANE Select | ENSP00000266126.5:p.Glu213Gly | |
| ENST00000266126.9:c.638A>G | ENSP00000266126.5:p.Glu213Gly | |
| ENST00000553401.5:c.636A>G | ENSP00000451681.1:n.636A>G | |
| ENST00000554748.2:c.2A>G | ENSP00000452582.2:p.Glu1Gly | |
| ENST00000556028.5:c.607A>G | ENSP00000452311.1:p.Arg203Gly | |
| NM_014239.3:c.638A>G | NP_055054.1:p.Glu213Gly | |
| NM_014239.4:c.638A>G MANE Select | NP_055054.1:p.Glu213Gly |