Revel Score:
ENST00000343257 (MANE Select)
0.576
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00398404 (MID)
Genomes Max Group AF
0.000729 (NFE)
Exomes Max Group AF
0.00418721 (MID)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321432C>G , CM000669.2:g.143321432C>G | GRCh38 |
| NC_000007.13:g.143018525C>G , CM000669.1:g.143018525C>G | GRCh37 |
| NC_000007.12:g.142728647C>G | NCBI36 |
| NG_009815.1:g.10307C>G | |
| NG_009815.2:g.10307C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.501C>G | ENSP00000498052.2:p.Phe167Leu | |
| ENST00000343257.7:c.501C>G MANE Select | ENSP00000339867.2:p.Phe167Leu | |
| ENST00000432192.6:c.269C>G | ||
| ENST00000650516.1:c.501C>G | ENSP00000498052.1:p.Phe167Leu | |
| ENST00000343257.6:c.501C>G | ENSP00000339867.2:p.Phe167Leu | |
| NM_000083.2:c.501C>G | NP_000074.2:p.Phe167Leu | |
| NR_046453.1:n.588C>G | ||
| XM_011515781.1:c.501C>G | XP_011514083.1:p.Phe167Leu | |
| XM_017011739.1:c.208C>G | XP_016867228.1:p.Pro70Ala | |
| XM_017011740.1:c.208C>G | XP_016867229.1:p.Pro70Ala | |
| NM_000083.3:c.501C>G MANE Select | NP_000074.3:p.Phe167Leu | |
| NR_046453.2:n.603C>G |