Revel Score:
ENST00000205890
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004368 (SAS)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00004579 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18157749G>A , CM000679.2:g.18157749G>A | GRCh38 |
| NC_000017.10:g.18061063G>A , CM000679.1:g.18061063G>A | GRCh37 |
| NC_000017.9:g.18001788G>A | NCBI36 |
| NG_011634.1:g.54044G>A | |
| NG_011634.2:g.54044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1154G>A | ||
| ENST00000643693.1:n.636G>A | ||
| ENST00000644795.1:c.608G>A | ENSP00000495720.1:p.Arg203His | |
| ENST00000646782.1:n.1550G>A | ||
| ENST00000647165.2:c.8816G>A MANE Select | ENSP00000495481.1:p.Arg2939His | |
| ENST00000651214.1:n.1453G>A | ||
| ENST00000205890.9:c.8816G>A | ENSP00000205890.5:p.Arg2939His | |
| ENST00000418233.7:c.608G>A | ENSP00000408800.3:p.Arg203His | |
| ENST00000445289.6:n.165G>A | ||
| ENST00000615845.4:c.8816G>A | ENSP00000481642.1:p.Arg2939His | |
| NM_016239.3:c.8816G>A | NP_057323.3:p.Arg2939His | |
| XM_011523921.1:c.8810G>A | XP_011522223.1:p.Arg2937His | |
| XM_017024714.2:c.8756G>A | XP_016880203.1:p.Arg2919His | |
| XM_017024715.2:c.8819G>A | XP_016880204.1:p.Arg2940His | |
| NM_016239.4:c.8816G>A MANE Select | NP_057323.3:p.Arg2939His |