Revel Score:
ENST00000311322
0.809
ENST00000538071
0.809
ENST00000535763
0.809
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954174C>T , CM000670.2:g.19954174C>T | GRCh38 |
| NC_000008.10:g.19811685C>T , CM000670.1:g.19811685C>T | GRCh37 |
| NC_000008.9:g.19855965C>T | NCBI36 |
| NG_008855.1:g.20104C>T | |
| NG_008855.2:g.57458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.596C>T MANE Select | ENSP00000497642.1:p.Ser199Phe | |
| ENST00000311322.8:c.596C>T | ENSP00000309757.6:p.Ser199Phe | |
| NM_000237.2:c.596C>T | NP_000228.1:p.Ser199Phe | |
| NM_000237.3:c.596C>T MANE Select | NP_000228.1:p.Ser199Phe |