Revel Score:
ENST00000355773 (MANE Select)
0.572
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00177374 (NFE)
Genomes Max Group AF
0.00168423 (NFE)
Exomes Max Group AF
0.00176537 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621883G>A , CM000668.2:g.73621883G>A | GRCh38 |
| NC_000006.11:g.74331606G>A , CM000668.1:g.74331606G>A | GRCh37 |
| NC_000006.10:g.74388327G>A | NCBI36 |
| NG_008272.1:g.37132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.899C>T MANE Select | ENSP00000348019.5:p.Ser300Phe | |
| ENST00000355773.5:c.899C>T | ENSP00000348019.5:p.Ser300Phe | |
| NM_012434.4:c.899C>T | NP_036566.1:p.Ser300Phe | |
| XM_005248710.2:c.848C>T | XP_005248767.1:p.Ser283Phe | |
| XM_005248711.1:c.701C>T | XP_005248768.1:p.Ser234Phe | |
| XM_011535750.1:c.899C>T | XP_011534052.1:p.Ser300Phe | |
| NM_012434.5:c.899C>T MANE Select | NP_036566.1:p.Ser300Phe | |
| NM_001382629.1:c.668C>T | NP_001369558.1:p.Ser223Phe | |
| NM_001382630.1:c.899C>T | NP_001369559.1:p.Ser300Phe | |
| NM_001382631.1:c.920C>T | NP_001369560.1:p.Ser307Phe | |
| NM_001382632.1:c.812C>T | NP_001369561.1:p.Ser271Phe | |
| NM_001382633.1:c.899C>T | NP_001369562.1:p.Ser300Phe | |
| NM_001382634.1:c.820-6436C>T | NP_001369563.1:n.820-6436C>T | |
| NM_001382635.1:c.896C>T | NP_001369564.1:p.Ser299Phe | |
| NM_001382636.1:c.581C>T | NP_001369565.1:p.Ser194Phe |