Revel Score:
ENST00000205890
0.837
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004284 (AMR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00004358 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18153858T>C , CM000679.2:g.18153858T>C | GRCh38 |
| NC_000017.10:g.18057172T>C , CM000679.1:g.18057172T>C | GRCh37 |
| NC_000017.9:g.17997897T>C | NCBI36 |
| NG_011634.1:g.50153T>C | |
| NG_011634.2:g.50153T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644795.1:c.-159T>C | ENSP00000495720.1:n.-159T>C | |
| ENST00000646782.1:n.205T>C | ||
| ENST00000647165.2:c.8050T>C MANE Select | ENSP00000495481.1:p.Tyr2684His | |
| ENST00000651214.1:n.196T>C | ||
| ENST00000205890.9:c.8050T>C | ENSP00000205890.5:p.Tyr2684His | |
| ENST00000418233.7:c.-159T>C | ENSP00000408800.3:n.-159T>C | |
| ENST00000615845.4:c.8050T>C | ENSP00000481642.1:p.Tyr2684His | |
| NM_016239.3:c.8050T>C | NP_057323.3:p.Tyr2684His | |
| XM_011523921.1:c.8044T>C | XP_011522223.1:p.Tyr2682His | |
| XM_017024714.2:c.7990T>C | XP_016880203.1:p.Tyr2664His | |
| XM_017024715.2:c.8053T>C | XP_016880204.1:p.Tyr2685His | |
| XR_001752809.1:n.324A>G | ||
| XR_001752810.1:n.367A>G | ||
| NM_016239.4:c.8050T>C MANE Select | NP_057323.3:p.Tyr2684His |