Revel Score:
ENST00000353479
0.949
ENST00000369733
0.949
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006235 (AFR)
Genomes Max Group AF
0.00007893 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104043852C>G , CM000672.2:g.104043852C>G | GRCh38 |
| NC_000010.10:g.105803610C>G , CM000672.1:g.105803610C>G | GRCh37 |
| NC_000010.9:g.105793600C>G | NCBI36 |
| NG_007069.1:g.47029G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2407G>C | ENSP00000358748.3:p.Gly803Arg | |
| ENST00000648076.2:c.2407G>C MANE Select | ENSP00000497653.1:p.Gly803Arg | |
| ENST00000353479.9:c.2407G>C | ENSP00000340937.5:p.Gly803Arg | |
| ENST00000369733.7:c.2407G>C | ENSP00000358748.3:p.Gly803Arg | |
| NM_000494.3:c.2407G>C | NP_000485.3:p.Gly803Arg | |
| NM_000494.4:c.2407G>C MANE Select | NP_000485.3:p.Gly803Arg |