Revel Score:
ENST00000393716 (MANE Select)
0.227
ENST00000466380
0.227
ENST00000337940
0.227
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02639627 (NFE)
Genomes Max Group AF
0.02462104 (NFE)
Exomes Max Group AF
0.02645072 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807356G>A , CM000665.2:g.119807356G>A | GRCh38 |
| NC_000003.11:g.119526203G>A , CM000665.1:g.119526203G>A | GRCh37 |
| NC_000003.10:g.121008893G>A | NCBI36 |
| NG_011856.1:g.31873G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.106G>A MANE Select | ENSP00000377319.3:p.Gly36Arg | |
| ENST00000466380.6:c.106G>A | ENSP00000420297.2:p.Gly36Arg | |
| ENST00000648112.1:c.*129G>A | ENSP00000497876.1:n.*129G>A | |
| ENST00000337940.4:c.223G>A | ENSP00000336528.4:p.Gly75Arg | |
| ENST00000393716.6:c.106G>A | ENSP00000377319.2:p.Gly36Arg | |
| ENST00000466380.5:c.106G>A | ENSP00000420297.1:p.Gly36Arg | |
| ENST00000474090.1:n.394G>A | ||
| NM_003889.3:c.106G>A | NP_003880.3:p.Gly36Arg | |
| NM_022002.2:c.223G>A | NP_071285.1:p.Gly75Arg | |
| NM_033013.2:c.106G>A | NP_148934.1:p.Gly36Arg | |
| NM_003889.4:c.106G>A MANE Select | NP_003880.3:p.Gly36Arg | |
| NM_022002.3:c.223G>A | NP_071285.1:p.Gly75Arg | |
| NM_033013.3:c.106G>A | NP_148934.1:p.Gly36Arg |