Revel Score:
ENST00000368089
0.966
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042339C>G , CM000663.2:g.160042339C>G | GRCh38 |
| NC_000001.10:g.160012129C>G , CM000663.1:g.160012129C>G | GRCh37 |
| NC_000001.9:g.158278753C>G | NCBI36 |
| NG_016411.1:g.32833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.166G>C | ||
| ENST00000636689.1:n.95-2991G>C | ||
| ENST00000637644.1:c.194G>C | ENSP00000490282.1:p.Arg65Pro | |
| ENST00000638728.1:c.194G>C | ENSP00000492619.1:p.Arg65Pro | |
| ENST00000638868.1:c.194G>C | ENSP00000491250.1:p.Arg65Pro | |
| ENST00000639408.1:c.194G>C | ENSP00000491635.1:p.Arg65Pro | |
| ENST00000640017.1:c.164G>C | ENSP00000491337.1:p.Arg55Pro | |
| ENST00000644903.1:c.194G>C MANE Select | ENSP00000495557.1:p.Arg65Pro | |
| ENST00000368089.3:c.194G>C | ENSP00000357068.3:p.Arg65Pro | |
| NM_002241.4:c.194G>C | NP_002232.2:p.Arg65Pro | |
| NM_002241.5:c.194G>C MANE Select | NP_002232.2:p.Arg65Pro |