Revel Score:
ENST00000378585 (MANE Select)
0.179
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02376114 (NFE)
Genomes Max Group AF
0.02226054 (NFE)
Exomes Max Group AF
0.02380164 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2028260G>A , CM000663.2:g.2028260G>A | GRCh38 |
| NC_000001.10:g.1959699G>A , CM000663.1:g.1959699G>A | GRCh37 |
| NC_000001.9:g.1949559G>A | NCBI36 |
| NG_008168.1:g.13932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.659G>A MANE Select | ENSP00000367848.4:p.Arg220His | |
| ENST00000638411.1:c.690G>A | ENSP00000491632.1:p.Pro230= | |
| ENST00000638604.1:n.1218G>A | ||
| ENST00000638763.1:c.402G>A | ||
| ENST00000638771.1:c.659G>A | ENSP00000492435.1:p.Arg220His | |
| ENST00000638804.1:c.137G>A | ENSP00000491871.1:p.Arg46His | |
| ENST00000639045.1:c.*645G>A | ENSP00000491997.1:n.*645G>A | |
| ENST00000639070.1:n.1238G>A | ||
| ENST00000639777.1:n.1263G>A | ||
| ENST00000640030.1:c.599G>A | ENSP00000491411.1:p.Arg200His | |
| ENST00000640067.1:c.743G>A | ENSP00000491844.1:p.Arg248His | |
| ENST00000640317.1:n.1008G>A | ||
| ENST00000640423.1:n.668G>A | ||
| ENST00000640892.1:n.1366G>A | ||
| ENST00000640949.1:c.659G>A | ENSP00000492500.1:p.Arg220His | |
| ENST00000640981.1:c.466G>A | ||
| ENST00000378585.5:c.659G>A | ENSP00000367848.4:p.Arg220His | |
| NM_000815.4:c.659G>A | NP_000806.2:p.Arg220His | |
| XM_011541194.1:c.698G>A | XP_011539496.1:p.Arg233His | |
| XM_011541194.3:c.698G>A | XP_011539496.1:p.Arg233His | |
| XM_017000936.1:c.1364G>A | XP_016856425.1:p.Arg455His | |
| NM_000815.5:c.659G>A MANE Select | NP_000806.2:p.Arg220His |