Revel Score:
ENST00000426690
0.186
ENST00000380099 (MANE Select)
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10252264 (AMR)
Genomes Max Group AF
0.0761967 (EAS)
Exomes Max Group AF
0.11476089 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055256C>T , CM000675.2:g.33055256C>T | GRCh38 |
| NC_000013.10:g.33629393C>T , CM000675.1:g.33629393C>T | GRCh37 |
| NC_000013.9:g.32527393C>T | NCBI36 |
| NG_011485.1:g.43823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1540C>T MANE Select | ENSP00000369442.3:p.Pro514Ser | |
| ENST00000380099.3:c.1540C>T | ENSP00000369442.3:p.Pro514Ser | |
| ENST00000487852.1:n.1548C>T | ||
| NM_004795.3:c.1540C>T | NP_004786.2:p.Pro514Ser | |
| XM_006719895.1:c.619C>T | XP_006719958.1:p.Pro207Ser | |
| XM_006719895.2:c.619C>T | XP_006719958.1:p.Pro207Ser | |
| NM_004795.4:c.1540C>T MANE Select | NP_004786.2:p.Pro514Ser |