Revel Score:
ENST00000248437 (MANE Select)
0.928
ENST00000392088
0.928
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250740C>T , CM000664.2:g.219250740C>T | GRCh38 |
| NC_000002.11:g.220115462C>T , CM000664.1:g.220115462C>T | GRCh37 |
| NC_000002.10:g.219823706C>T | NCBI36 |
| NG_029913.1:g.8177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248437.9:c.959G>A MANE Select | ENSP00000248437.4:p.Arg320His | |
| ENST00000248437.8:c.959G>A | ENSP00000248437.4:p.Arg320His | |
| ENST00000392088.6:c.914G>A | ENSP00000375938.2:p.Arg305His | |
| ENST00000498660.1:n.779G>A | ||
| NM_001278552.1:c.914G>A | NP_001265481.1:p.Arg305His | |
| NM_006000.2:c.959G>A | NP_005991.1:p.Arg320His | |
| XM_005246832.1:c.914G>A | XP_005246889.1:p.Arg305His | |
| XM_017004824.1:c.500G>A | XP_016860313.1:p.Arg167His | |
| NM_006000.3:c.959G>A MANE Select | NP_005991.1:p.Arg320His | |
| NM_001278552.2:c.914G>A | NP_001265481.1:p.Arg305His |