Revel Score:
ENST00000394936 (MANE Select)
0.091
ENST00000373120
0.091
ENST00000357471
0.091
ENST00000394934
0.091
ENST00000394929
0.091
ENST00000404083
0.091
ENST00000394940
0.091
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005788 (EAS)
Exomes Max Group AF
0.0000651 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819769C>G , CM000672.2:g.71819769C>G | GRCh38 |
| NC_000010.10:g.73579526C>G , CM000672.1:g.73579526C>G | GRCh37 |
| NC_000010.9:g.73249532C>G | NCBI36 |
| NG_009301.1:g.36557G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1137G>C MANE Select | ENSP00000378394.3:p.Glu379Asp | |
| ENST00000394934.4:c.1146G>C | ENSP00000378392.2:p.Glu382Asp | |
| ENST00000394936.7:c.1137G>C | ENSP00000378394.3:p.Glu379Asp | |
| ENST00000493143.1:n.558G>C | ||
| ENST00000610929.3:c.285G>C | ENSP00000480857.1:p.Glu95Asp | |
| NM_001042465.1:c.1146G>C | NP_001035930.1:p.Glu382Asp | |
| NM_001042466.1:c.1143G>C | NP_001035931.1:p.Glu381Asp | |
| NM_002778.2:c.1137G>C | NP_002769.1:p.Glu379Asp | |
| NM_001042465.2:c.1146G>C | NP_001035930.1:p.Glu382Asp | |
| NM_001042466.2:c.1143G>C | NP_001035931.1:p.Glu381Asp | |
| NM_002778.3:c.1137G>C | NP_002769.1:p.Glu379Asp | |
| NM_002778.4:c.1137G>C MANE Select | NP_002769.1:p.Glu379Asp | |
| NM_001042465.3:c.1146G>C | NP_001035930.1:p.Glu382Asp | |
| NM_001042466.3:c.1143G>C | NP_001035931.1:p.Glu381Asp |