Revel Score:
ENST00000155840 (MANE Select)
0.964
ENST00000335475
0.964
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006724 (NFE)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00007135 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585264A>G , CM000673.2:g.2585264A>G | GRCh38 |
| NC_000011.9:g.2606494A>G , CM000673.1:g.2606494A>G | GRCh37 |
| NC_000011.8:g.2563070A>G | NCBI36 |
| NG_008935.1:g.145274A>G , LRG_287:g.145274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1719A>G | ENSP00000434560.2:n.771+1719A>G | |
| ENST00000646564.2:c.588+1719A>G | ENSP00000495806.2:n.588+1719A>G | |
| ENST00000155840.12:c.1085A>G MANE Select | ENSP00000155840.2:p.Lys362Arg | |
| ENST00000335475.6:c.704A>G | ENSP00000334497.5:p.Lys235Arg | |
| ENST00000646564.1:c.234+1719A>G | ENSP00000495806.1:n.234+1719A>G | |
| ENST00000155840.9:c.1085A>G | ENSP00000155840.2:p.Lys362Arg | |
| ENST00000335475.5:c.704A>G | ENSP00000334497.5:p.Lys235Arg | |
| NM_000218.2:c.1085A>G , LRG_287t1:c.1085A>G | NP_000209.2:p.Lys362Arg | |
| NM_181798.1:c.704A>G , LRG_287t2:c.704A>G | NP_861463.1:p.Lys235Arg | |
| NM_000218.3:c.1085A>G MANE Select | NP_000209.2:p.Lys362Arg |