Revel Score:
ENST00000361283 (MANE Select)
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.114325331C>G , CM000675.2:g.114325331C>G | GRCh38 |
| NC_000013.10:g.115090806C>G , CM000675.1:g.115090806C>G | GRCh37 |
| NC_000013.9:g.114108908C>G | NCBI36 |
| NG_051829.1:g.15997C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643483.2:c.1489C>G | ENSP00000496699.1:p.Arg497Gly | |
| ENST00000644294.2:c.1489C>G | ENSP00000495985.2:p.Arg497Gly | |
| ENST00000645174.2:c.1489C>G | ENSP00000494031.2:p.Arg497Gly | |
| ENST00000700527.1:c.1489C>G | ENSP00000515032.1:p.Arg497Gly | |
| ENST00000700528.1:c.1489C>G | ENSP00000515033.1:p.Arg497Gly | |
| ENST00000361283.4:c.1489C>G MANE Select | ENSP00000354730.1:p.Arg497Gly | |
| ENST00000643483.1:c.1489C>G | ENSP00000496699.1:p.Arg497Gly | |
| ENST00000646155.1:n.123+10688C>G | ||
| ENST00000646956.1:n.285+4099C>G | ||
| ENST00000361283.2:c.1489C>G | ENSP00000354730.1:p.Arg497Gly | |
| NM_001164144.1:c.1489C>G | NP_001157616.1:p.Arg497Gly | |
| NM_001164145.1:c.1489C>G | NP_001157617.1:p.Arg497Gly | |
| NM_032436.2:c.1489C>G | NP_115812.1:p.Arg497Gly | |
| NM_001164144.2:c.1489C>G | NP_001157616.1:p.Arg497Gly | |
| NM_001164145.2:c.1489C>G | NP_001157617.1:p.Arg497Gly | |
| NM_032436.3:c.1489C>G | NP_115812.1:p.Arg497Gly | |
| NM_032436.4:c.1489C>G MANE Select | NP_115812.1:p.Arg497Gly | |
| NM_001164144.3:c.1489C>G | NP_001157616.1:p.Arg497Gly | |
| NM_001164145.3:c.1489C>G | NP_001157617.1:p.Arg497Gly |