Revel Score:
ENST00000368089
0.515
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020996 (AFR)
Genomes Max Group AF
0.00014886 (AFR)
Exomes Max Group AF
0.00020637 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042228G>A , CM000663.2:g.160042228G>A | GRCh38 |
| NC_000001.10:g.160012018G>A , CM000663.1:g.160012018G>A | GRCh37 |
| NC_000001.9:g.158278642G>A | NCBI36 |
| NG_016411.1:g.32944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.277C>T | ||
| ENST00000636689.1:n.95-2880C>T | ||
| ENST00000637644.1:c.305C>T | ENSP00000490282.1:p.Pro102Leu | |
| ENST00000638728.1:c.305C>T | ENSP00000492619.1:p.Pro102Leu | |
| ENST00000638840.1:c.27C>T | ||
| ENST00000638868.1:c.305C>T | ENSP00000491250.1:p.Pro102Leu | |
| ENST00000639408.1:c.305C>T | ENSP00000491635.1:p.Pro102Leu | |
| ENST00000640017.1:c.275C>T | ENSP00000491337.1:p.Pro92Leu | |
| ENST00000644903.1:c.305C>T MANE Select | ENSP00000495557.1:p.Pro102Leu | |
| ENST00000368089.3:c.305C>T | ENSP00000357068.3:p.Pro102Leu | |
| ENST00000509700.1:n.68C>T | ||
| NM_002241.4:c.305C>T | NP_002232.2:p.Pro102Leu | |
| NM_002241.5:c.305C>T MANE Select | NP_002232.2:p.Pro102Leu |