Revel Score:
ENST00000451242
0.038
ENST00000396725
0.038
ENST00000290510 (MANE Select)
0.038
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6839304T>G , CM000674.2:g.6839304T>G | GRCh38 |
| NC_000012.11:g.6948468T>G , CM000674.1:g.6948468T>G | GRCh37 |
| NC_000012.10:g.6818729T>G | NCBI36 |
| NG_009100.1:g.4094T>G | |
| NG_033740.1:g.15932T>G | |
| NG_009100.2:g.4094T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290510.10:c.2054T>G MANE Select | ENSP00000478600.1:p.Ile685Arg | |
| ENST00000290510.9:c.2054T>G | ENSP00000478600.1:p.Ile685Arg | |
| ENST00000536140.5:n.2684T>G | ||
| ENST00000612048.4:n.1587T>G | ||
| NM_014262.4:c.2054T>G | NP_055077.2:p.Ile685Arg | |
| NM_014262.5:c.2054T>G MANE Select | NP_055077.2:p.Ile685Arg |