Revel Score:
ENST00000362061 (MANE Select)
0.889
ENST00000367338
0.889
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001326 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201077912C>A , CM000663.2:g.201077912C>A | GRCh38 |
| NC_000001.10:g.201047040C>A , CM000663.1:g.201047040C>A | GRCh37 |
| NC_000001.9:g.199313663C>A | NCBI36 |
| NG_009816.1:g.39655G>T | |
| NG_009816.2:g.39655G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1586G>T MANE Select | ENSP00000355192.3:p.Cys529Phe | |
| ENST00000679417.1:c.*749G>T | ENSP00000506706.1:n.*749G>T | |
| ENST00000680059.1:c.1586G>T | ENSP00000504944.1:p.Cys529Phe | |
| ENST00000681078.1:c.1586G>T | ENSP00000506645.1:p.Cys529Phe | |
| ENST00000681190.1:c.1586G>T | ENSP00000506428.1:p.Cys529Phe | |
| ENST00000681874.1:c.1586G>T | ENSP00000505162.1:p.Cys529Phe | |
| ENST00000362061.3:c.1586G>T | ENSP00000355192.3:p.Cys529Phe | |
| ENST00000367338.7:c.1586G>T | ENSP00000356307.3:p.Cys529Phe | |
| NM_000069.2:c.1586G>T | NP_000060.2:p.Cys529Phe | |
| XM_005245478.2:c.1586G>T | XP_005245535.1:p.Cys529Phe | |
| XM_005245478.3:c.1586G>T | XP_005245535.1:p.Cys529Phe | |
| NM_000069.3:c.1586G>T MANE Select | NP_000060.2:p.Cys529Phe |