Revel Score:
ENST00000333850 (MANE Select)
0.694
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00164447 (NFE)
Genomes Max Group AF
0.00141172 (NFE)
Exomes Max Group AF
0.00164531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71972526C>T , CM000674.2:g.71972526C>T | GRCh38 |
| NC_000012.11:g.72366306C>T , CM000674.1:g.72366306C>T | GRCh37 |
| NC_000012.10:g.70652573C>T | NCBI36 |
| NG_008279.1:g.38681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.616C>T MANE Select | ENSP00000329093.3:p.Pro206Ser | |
| ENST00000333850.3:c.616C>T | ENSP00000329093.3:p.Pro206Ser | |
| NM_173353.3:c.616C>T | NP_775489.2:p.Pro206Ser | |
| XM_011537899.1:c.22C>T | XP_011536201.1:p.Pro8Ser | |
| NM_173353.4:c.616C>T MANE Select | NP_775489.2:p.Pro206Ser |