Revel Score:
ENST00000371325 (MANE Select)
0.011
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56533430G>T , CM000682.2:g.56533430G>T | GRCh38 |
| NC_000020.10:g.55108486G>T , CM000682.1:g.55108486G>T | GRCh37 |
| NC_000020.9:g.54541893G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371325.1:c.89G>T (FAM209B) MANE Select | ENSP00000360376.1:p.Ser30Ile | |
| NM_001013646.3:c.89G>T (FAM209B) | NP_001013668.2:p.Ser30Ile | |
| XM_006723793.2:c.293G>T (FAM209B) | XP_006723856.1:p.Ser98Ile | |
| XM_011528817.1:c.185G>T (FAM209B) | XP_011527119.1:p.Ser62Ile | |
| XM_017027849.1:c.293G>T (FAM209B) | XP_016883338.1:p.Ser98Ile | |
| XR_001754199.1:n.791G>T (FAM209A) | ||
| XR_001754270.1:n.701G>T (FAM209B) | ||
| XR_001754271.1:n.701G>T (FAM209B) | ||
| XR_001754272.1:n.701G>T (FAM209B) | ||
| XR_001754273.1:n.701G>T (FAM209B) | ||
| NM_001013646.4:c.89G>T (FAM209B) MANE Select | NP_001013668.2:p.Ser30Ile |