Revel Score:
ENST00000457854
0.924
ENST00000222214 (MANE Select)
0.924
ENST00000422947
0.924
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040235 (AMR)
Genomes Max Group AF
0.00026081 (AMR)
Exomes Max Group AF
0.00038799 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897824C>T , CM000681.2:g.12897824C>T | GRCh38 |
| NC_000019.9:g.13008638C>T , CM000681.1:g.13008638C>T | GRCh37 |
| NC_000019.8:g.12869638C>T | NCBI36 |
| NG_009292.1:g.11665C>T | |
| NG_033049.1:g.26449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1204C>T MANE Select | ENSP00000222214.4:p.Arg402Trp | |
| ENST00000222214.9:c.1204C>T | ENSP00000222214.4:p.Arg402Trp | |
| ENST00000585420.5:n.1534C>T | ||
| ENST00000590472.5:c.248C>T | ||
| ENST00000590530.5:c.*644C>T | ENSP00000468452.1:n.*644C>T | |
| ENST00000591043.1:n.1514C>T | ||
| ENST00000591050.1:c.171C>T | ||
| ENST00000591470.5:c.1204C>T | ENSP00000466845.1:p.Arg402Trp | |
| NM_000159.3:c.1204C>T | NP_000150.1:p.Arg402Trp | |
| NM_013976.3:c.1204C>T | NP_039663.1:p.Arg402Trp | |
| NR_102316.1:n.1367C>T | ||
| NR_102317.1:n.1585C>T | ||
| XM_006722721.2:c.1204C>T | XP_006722784.1:p.Arg402Trp | |
| XM_011527899.1:c.1204C>T | XP_011526201.1:p.Arg402Trp | |
| XM_011527900.1:c.1204C>T | XP_011526202.1:p.Arg402Trp | |
| XM_011527899.2:c.1204C>T | XP_011526201.1:p.Arg402Trp | |
| XM_011527900.2:c.1204C>T | XP_011526202.1:p.Arg402Trp | |
| XM_017026580.1:c.1204C>T | XP_016882069.1:p.Arg402Trp | |
| NM_000159.4:c.1204C>T MANE Select | NP_000150.1:p.Arg402Trp | |
| NM_013976.4:c.1204C>T | NP_039663.1:p.Arg402Trp | |
| NM_013976.5:c.1204C>T | NP_039663.1:p.Arg402Trp |