Revel Score:
ENST00000370449
0.884
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006972 (NFE)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00007281 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836125G>A , CM000672.2:g.99836125G>A | GRCh38 |
| NC_000010.10:g.101595882G>A , CM000672.1:g.101595882G>A | GRCh37 |
| NC_000010.9:g.101585872G>A | NCBI36 |
| NG_011798.1:g.58420G>A | |
| NG_011798.2:g.58528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3449G>A MANE Select | ENSP00000497274.1:p.Arg1150His | |
| ENST00000370449.8:c.3449G>A | ENSP00000359478.4:p.Arg1150His | |
| NM_000392.4:c.3449G>A | NP_000383.1:p.Arg1150His | |
| XM_006717630.2:c.2753G>A | XP_006717693.1:p.Arg918His | |
| XR_945604.1:n.3638G>A | ||
| XR_945605.1:n.3640G>A | ||
| NM_000392.5:c.3449G>A MANE Select | NP_000383.2:p.Arg1150His | |
| XM_006717630.3:c.2753G>A | XP_006717693.1:p.Arg918His | |
| XR_945604.3:n.3692G>A | ||
| XR_945605.3:n.3692G>A |