Revel Score:
ENST00000399082
0.252
ENST00000399079
0.252
ENST00000374943
0.252
ENST00000434651 (MANE Select)
0.252
ENST00000399084
0.252
ENST00000447884
0.252
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12212213 (SAS)
Genomes Max Group AF
0.14453164 (SAS)
Exomes Max Group AF
0.12000889 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32666562C>G , CM000668.2:g.32666562C>G | GRCh38 |
| NC_000006.11:g.32634339C>G , CM000668.1:g.32634339C>G | GRCh37 |
| NC_000006.10:g.32742317C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434651.7:c.46G>C MANE Select | ENSP00000407332.2:p.Ala16Pro | |
| ENST00000374943.8:c.46G>C | ENSP00000364080.4:p.Ala16Pro | |
| ENST00000399079.7:c.46G>C | ENSP00000382029.3:p.Ala16Pro | |
| ENST00000399082.7:c.46G>C | ENSP00000382032.3:p.Ala16Pro | |
| ENST00000399084.5:c.46G>C | ENSP00000382034.1:p.Ala16Pro | |
| ENST00000434651.6:c.46G>C | ENSP00000407332.2:p.Ala16Pro | |
| ENST00000484729.2:c.46G>C | ENSP00000436686.1:p.Ala16Pro | |
| ENST00000487676.1:n.77G>C | ||
| NM_001243961.1:c.46G>C | NP_001230890.1:p.Ala16Pro | |
| NM_002123.4:c.46G>C | NP_002114.3:p.Ala16Pro | |
| NM_001243961.2:c.46G>C | NP_001230890.1:p.Ala16Pro | |
| NM_002123.5:c.46G>C MANE Select | NP_002114.3:p.Ala16Pro |