Revel Score:
ENST00000393716 (MANE Select)
0.178
ENST00000466380
0.178
ENST00000337940
0.178
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01440158 (AFR)
Genomes Max Group AF
0.01368123 (AFR)
Exomes Max Group AF
0.01462998 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807302G>A , CM000665.2:g.119807302G>A | GRCh38 |
| NC_000003.11:g.119526149G>A , CM000665.1:g.119526149G>A | GRCh37 |
| NC_000003.10:g.121008839G>A | NCBI36 |
| NG_011856.1:g.31819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.52G>A MANE Select | ENSP00000377319.3:p.Glu18Lys | |
| ENST00000466380.6:c.52G>A | ENSP00000420297.2:p.Glu18Lys | |
| ENST00000648112.1:c.*75G>A | ENSP00000497876.1:n.*75G>A | |
| ENST00000337940.4:c.169G>A | ENSP00000336528.4:p.Glu57Lys | |
| ENST00000393716.6:c.52G>A | ENSP00000377319.2:p.Glu18Lys | |
| ENST00000466380.5:c.52G>A | ENSP00000420297.1:p.Glu18Lys | |
| ENST00000474090.1:n.340G>A | ||
| NM_003889.3:c.52G>A | NP_003880.3:p.Glu18Lys | |
| NM_022002.2:c.169G>A | NP_071285.1:p.Glu57Lys | |
| NM_033013.2:c.52G>A | NP_148934.1:p.Glu18Lys | |
| NM_003889.4:c.52G>A MANE Select | NP_003880.3:p.Glu18Lys | |
| NM_022002.3:c.169G>A | NP_071285.1:p.Glu57Lys | |
| NM_033013.3:c.52G>A | NP_148934.1:p.Glu18Lys |