Revel Score:
ENST00000316623 (MANE Select)
0.792
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487323G>A , CM000677.2:g.48487323G>A | GRCh38 |
| NC_000015.9:g.48779520G>A , CM000677.1:g.48779520G>A | GRCh37 |
| NC_000015.8:g.46566812G>A | NCBI36 |
| NG_008805.2:g.163466C>T , LRG_778:g.163466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3452C>T | ENSP00000453958.2:p.Ser1151Phe | |
| ENST00000674301.2:c.3452C>T | ENSP00000501333.2:p.Ser1151Phe | |
| ENST00000684448.1:n.2126C>T | ||
| ENST00000316623.10:c.3452C>T MANE Select | ENSP00000325527.5:p.Ser1151Phe | |
| ENST00000316623.9:c.3452C>T | ENSP00000325527.5:p.Ser1151Phe | |
| ENST00000537463.6:c.637-12673C>T | ENSP00000440294.2:n.637-12673C>T | |
| NM_000138.4:c.3452C>T , LRG_778t1:c.3452C>T | NP_000129.3:p.Ser1151Phe | |
| NM_000138.5:c.3452C>T MANE Select | NP_000129.3:p.Ser1151Phe |