Revel Score:
ENST00000294008 (MANE Select)
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00701541 (AFR)
Genomes Max Group AF
0.00700479 (AFR)
Exomes Max Group AF
0.00656564 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3594510C>G , CM000678.2:g.3594510C>G | GRCh38 |
| NC_000016.9:g.3644511C>G , CM000678.1:g.3644511C>G | GRCh37 |
| NC_000016.8:g.3584512C>G | NCBI36 |
| NG_028123.1:g.22075G>C , LRG_503:g.22075G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.2103G>C MANE Select | ENSP00000294008.3:p.Glu701Asp | |
| ENST00000294008.3:c.2103G>C | ENSP00000294008.3:p.Glu701Asp | |
| NM_032444.2:c.2103G>C , LRG_503t1:c.2103G>C | NP_115820.2:p.Glu701Asp | |
| XM_011522715.1:c.2103G>C | XP_011521017.1:p.Glu701Asp | |
| NM_032444.3:c.2103G>C | NP_115820.2:p.Glu701Asp | |
| XM_011522715.3:c.2103G>C | XP_011521017.1:p.Glu701Asp | |
| XM_017023775.2:c.1281G>C | XP_016879264.1:p.Glu427Asp | |
| XM_024450471.1:c.2103G>C | XP_024306239.1:p.Glu701Asp | |
| NM_032444.4:c.2103G>C MANE Select | NP_115820.2:p.Glu701Asp |