Revel Score:
ENST00000343257 (MANE Select)
0.677
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332734G>A , CM000669.2:g.143332734G>A | GRCh38 |
| NC_000007.13:g.143029827G>A , CM000669.1:g.143029827G>A | GRCh37 |
| NC_000007.12:g.142739949G>A | NCBI36 |
| NG_009815.1:g.21609G>A | |
| NG_009815.2:g.21609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1262G>A | ENSP00000498052.2:p.Arg421His | |
| ENST00000343257.7:c.1262G>A MANE Select | ENSP00000339867.2:p.Arg421His | |
| ENST00000432192.6:c.1086G>A | ||
| ENST00000343257.6:c.1262G>A | ENSP00000339867.2:p.Arg421His | |
| NM_000083.2:c.1262G>A | NP_000074.2:p.Arg421His | |
| NR_046453.1:n.1341+231G>A | ||
| XM_011515781.1:c.1286G>A | XP_011514083.1:p.Arg429His | |
| XM_011515782.1:c.8G>A | XP_011514084.1:p.Arg3His | |
| XM_011515782.2:c.8G>A | XP_011514084.1:p.Arg3His | |
| XM_017011739.1:c.836G>A | XP_016867228.1:p.Arg279His | |
| XM_017011740.1:c.812G>A | XP_016867229.1:p.Arg271His | |
| NM_000083.3:c.1262G>A MANE Select | NP_000074.3:p.Arg421His | |
| NR_046453.2:n.1356+231G>A |