Revel Score:
ENST00000241261 (MANE Select)
0.691
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000765 (NFE)
Exomes Max Group AF
0.00000812 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172506513A>C , CM000665.2:g.172506513A>C | GRCh38 |
| NC_000003.11:g.172224303A>C , CM000665.1:g.172224303A>C | GRCh37 |
| NC_000003.10:g.173706997A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241261.7:c.825T>G MANE Select | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000241261.6:c.825T>G | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000420541.6:c.*371T>G | ENSP00000389931.2:n.*371T>G | |
| NM_001190942.1:c.*371T>G | NP_001177871.1:n.*371T>G | |
| NM_003810.3:c.825T>G | NP_003801.1:p.Phe275Leu | |
| NR_033994.1:n.905T>G | ||
| NM_003810.4:c.825T>G MANE Select | NP_003801.1:p.Phe275Leu | |
| NM_001190942.2:c.*371T>G | NP_001177871.1:n.*371T>G | |
| NR_033994.2:n.828T>G |