Revel Score:
ENST00000347364 (MANE Select)
0.888
ENST00000399054
0.888
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001884 (NFE)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00001379 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413394C>G , CM000682.2:g.10413394C>G | GRCh38 |
| NC_000020.10:g.10394042C>G , CM000682.1:g.10394042C>G | GRCh37 |
| NC_000020.9:g.10342042C>G | NCBI36 |
| NG_009109.1:g.25825G>C | |
| NG_009109.2:g.25825G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.121G>C | ENSP00000498849.1:p.Gly41Arg | |
| ENST00000652676.1:n.458+402G>C | ||
| ENST00000347364.7:c.121G>C MANE Select | ENSP00000246062.4:p.Gly41Arg | |
| ENST00000399054.6:c.121G>C | ENSP00000382008.2:p.Gly41Arg | |
| NM_018848.3:c.121G>C | NP_061336.1:p.Gly41Arg | |
| NM_170784.2:c.121G>C | NP_740754.1:p.Gly41Arg | |
| NR_072977.1:n.364-4591G>C | ||
| NR_072977.2:n.347-4591G>C | ||
| NM_170784.3:c.121G>C MANE Select | NP_740754.1:p.Gly41Arg |