Revel Score:
ENST00000394936 (MANE Select)
0.561
ENST00000373120
0.561
ENST00000357471
0.561
ENST00000394934
0.561
ENST00000404083
0.561
ENST00000394940
0.561
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003183 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00002832 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71820245T>A , CM000672.2:g.71820245T>A | GRCh38 |
| NC_000010.10:g.73580002T>A , CM000672.1:g.73580002T>A | GRCh37 |
| NC_000010.9:g.73250008T>A | NCBI36 |
| NG_009301.1:g.36081A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1000A>T MANE Select | ENSP00000378394.3:p.Thr334Ser | |
| ENST00000394934.4:c.1009A>T | ENSP00000378392.2:p.Thr337Ser | |
| ENST00000394936.7:c.1000A>T | ENSP00000378394.3:p.Thr334Ser | |
| ENST00000493143.1:n.421A>T | ||
| ENST00000610929.3:c.271-462A>T | ENSP00000480857.1:n.271-462A>T | |
| ENST00000633965.1:c.410A>T | ||
| NM_001042465.1:c.1009A>T | NP_001035930.1:p.Thr337Ser | |
| NM_001042466.1:c.1006A>T | NP_001035931.1:p.Thr336Ser | |
| NM_002778.2:c.1000A>T | NP_002769.1:p.Thr334Ser | |
| NM_001042465.2:c.1009A>T | NP_001035930.1:p.Thr337Ser | |
| NM_001042466.2:c.1006A>T | NP_001035931.1:p.Thr336Ser | |
| NM_002778.3:c.1000A>T | NP_002769.1:p.Thr334Ser | |
| NM_002778.4:c.1000A>T MANE Select | NP_002769.1:p.Thr334Ser | |
| NM_001042465.3:c.1009A>T | NP_001035930.1:p.Thr337Ser | |
| NM_001042466.3:c.1006A>T | NP_001035931.1:p.Thr336Ser |