Revel Score:
ENST00000394936 (MANE Select)
0.360
ENST00000373120
0.360
ENST00000357471
0.360
ENST00000394934
0.360
ENST00000404083
0.360
ENST00000394940
0.360
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014354 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00014648 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819818G>A , CM000672.2:g.71819818G>A | GRCh38 |
| NC_000010.10:g.73579575G>A , CM000672.1:g.73579575G>A | GRCh37 |
| NC_000010.9:g.73249581G>A | NCBI36 |
| NG_009301.1:g.36508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1088C>T MANE Select | ENSP00000378394.3:p.Thr363Met | |
| ENST00000394934.4:c.1097C>T | ENSP00000378392.2:p.Thr366Met | |
| ENST00000394936.7:c.1088C>T | ENSP00000378394.3:p.Thr363Met | |
| ENST00000493143.1:n.509C>T | ||
| ENST00000610929.3:c.271-35C>T | ENSP00000480857.1:n.271-35C>T | |
| ENST00000633965.1:c.498C>T | ||
| NM_001042465.1:c.1097C>T | NP_001035930.1:p.Thr366Met | |
| NM_001042466.1:c.1094C>T | NP_001035931.1:p.Thr365Met | |
| NM_002778.2:c.1088C>T | NP_002769.1:p.Thr363Met | |
| NM_001042465.2:c.1097C>T | NP_001035930.1:p.Thr366Met | |
| NM_001042466.2:c.1094C>T | NP_001035931.1:p.Thr365Met | |
| NM_002778.3:c.1088C>T | NP_002769.1:p.Thr363Met | |
| NM_002778.4:c.1088C>T MANE Select | NP_002769.1:p.Thr363Met | |
| NM_001042465.3:c.1097C>T | NP_001035930.1:p.Thr366Met | |
| NM_001042466.3:c.1094C>T | NP_001035931.1:p.Thr365Met |