ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Revel Score:
ENST00000310926 (MANE Select)
0.807
ENST00000493729
0.807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133947292C>A , CM000665.2:g.133947292C>A | GRCh38 |
| NC_000003.11:g.133666136C>A , CM000665.1:g.133666136C>A | GRCh37 |
| NC_000003.10:g.135148826C>A | NCBI36 |
| NG_031964.2:g.109893G>T | |
| NG_031964.3:g.109893G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.1259G>T MANE Select | ENSP00000311291.4:p.Cys420Phe | |
| ENST00000310926.8:c.1259G>T | ENSP00000311291.4:p.Cys420Phe | |
| ENST00000462770.5:n.839G>T | ||
| ENST00000481359.3:c.1105+1244G>T | ENSP00000420028.3:n.1105+1244G>T | |
| ENST00000493729.5:c.1031G>T | ENSP00000418893.1:p.Cys344Phe | |
| NM_005630.2:c.1259G>T | NP_005621.2:p.Cys420Phe | |
| XM_011513090.1:c.1259G>T | XP_011511392.1:p.Cys420Phe | |
| XM_017007077.1:c.755G>T | XP_016862566.1:p.Cys252Phe | |
| XM_024453721.1:c.1259G>T | XP_024309489.1:p.Cys420Phe | |
| NM_005630.3:c.1259G>T MANE Select | NP_005621.2:p.Cys420Phe |