Revel Score:
ENST00000399402
0.909
ENST00000307363 (MANE Select)
0.909
ENST00000445488
0.909
ENST00000307377
0.909
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997310C>T , CM000665.2:g.32997310C>T | GRCh38 |
| NC_000003.11:g.33038802C>T , CM000665.1:g.33038802C>T | GRCh37 |
| NC_000003.10:g.33013806C>T | NCBI36 |
| NG_009005.1:g.104893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1769G>A MANE Select | ENSP00000306920.4:p.Arg590His | |
| ENST00000307363.9:c.1769G>A | ENSP00000306920.4:p.Arg590His | |
| ENST00000307377.12:c.1376G>A | ENSP00000305920.8:p.Arg459His | |
| ENST00000399402.7:c.1679G>A | ENSP00000382333.2:p.Arg560His | |
| NM_000404.2:c.1769G>A | NP_000395.2:p.Arg590His | |
| NM_000404.3:c.1769G>A | NP_000395.2:p.Arg590His | |
| NM_001079811.1:c.1679G>A | NP_001073279.1:p.Arg560His | |
| NM_001079811.2:c.1679G>A | NP_001073279.1:p.Arg560His | |
| NM_001135602.1:c.1376G>A | NP_001129074.1:p.Arg459His | |
| NM_001135602.2:c.1376G>A | NP_001129074.1:p.Arg459His | |
| NM_001317040.1:c.1913G>A | NP_001303969.1:p.Arg638His | |
| NM_000404.4:c.1769G>A MANE Select | NP_000395.3:p.Arg590His | |
| NM_001079811.3:c.1679G>A | NP_001073279.2:p.Arg560His | |
| NM_001135602.3:c.1376G>A | NP_001129074.2:p.Arg459His | |
| NM_001317040.2:c.1913G>A | NP_001303969.2:p.Arg638His | |
| NM_001393580.1:c.1734+16746G>A | NP_001380509.1:n.1734+16746G>A |