Revel Score:
ENST00000419175
0.066
ENST00000371174 (MANE Select)
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99847152 (NFE)
Genomes Max Group AF
0.99365855 (NFE)
Exomes Max Group AF
0.99842744 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96318482A>G , CM000672.2:g.96318482A>G | GRCh38 |
| NC_000010.10:g.98078239A>G , CM000672.1:g.98078239A>G | GRCh37 |
| NC_000010.9:g.98068229A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371174.5:c.334A>G MANE Select | ENSP00000360216.2:p.Arg112Gly | |
| ENST00000371174.4:c.334A>G | ENSP00000360216.2:p.Arg112Gly | |
| ENST00000630152.1:c.334A>G | ENSP00000486733.1:p.Arg112Gly | |
| NM_001017520.1:c.334A>G | NP_001017520.1:p.Arg112Gly | |
| NM_004088.3:c.334A>G | NP_004079.3:p.Arg112Gly | |
| XM_011539420.1:c.334A>G | XP_011537722.1:p.Arg112Gly | |
| NM_004088.4:c.334A>G MANE Select | NP_004079.3:p.Arg112Gly | |
| NM_001017520.2:c.334A>G | NP_001017520.1:p.Arg112Gly |