Revel Score:
ENST00000394936 (MANE Select)
0.204
ENST00000373120
0.204
ENST00000357471
0.204
ENST00000394934
0.204
ENST00000394929
0.204
ENST00000404083
0.204
ENST00000394940
0.204
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032345 (MID)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00034157 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71818700G>A , CM000672.2:g.71818700G>A | GRCh38 |
| NC_000010.10:g.73578457G>A , CM000672.1:g.73578457G>A | GRCh37 |
| NC_000010.9:g.73248463G>A | NCBI36 |
| NG_009301.1:g.37626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1456C>T MANE Select | ENSP00000378394.3:p.His486Tyr | |
| ENST00000394934.4:c.1465C>T | ENSP00000378392.2:p.His489Tyr | |
| ENST00000394936.7:c.1456C>T | ENSP00000378394.3:p.His486Tyr | |
| ENST00000495196.1:n.266C>T | ||
| ENST00000610929.3:c.604C>T | ENSP00000480857.1:p.His202Tyr | |
| NM_001042465.1:c.1465C>T | NP_001035930.1:p.His489Tyr | |
| NM_001042466.1:c.1462C>T | NP_001035931.1:p.His488Tyr | |
| NM_002778.2:c.1456C>T | NP_002769.1:p.His486Tyr | |
| NM_001042465.2:c.1465C>T | NP_001035930.1:p.His489Tyr | |
| NM_001042466.2:c.1462C>T | NP_001035931.1:p.His488Tyr | |
| NM_002778.3:c.1456C>T | NP_002769.1:p.His486Tyr | |
| NM_002778.4:c.1456C>T MANE Select | NP_002769.1:p.His486Tyr | |
| NM_001042465.3:c.1465C>T | NP_001035930.1:p.His489Tyr | |
| NM_001042466.3:c.1462C>T | NP_001035931.1:p.His488Tyr |