COSMIC:
COSM6394024 (not active)
COSM6394025 (not active)
Revel Score:
ENST00000399082
0.181
ENST00000399079
0.181
ENST00000374943
0.181
ENST00000434651 (MANE Select)
0.181
ENST00000399084
0.181
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12232148 (SAS)
Genomes Max Group AF
0.1425639 (SAS)
Exomes Max Group AF
0.12016309 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32666505A>G , CM000668.2:g.32666505A>G | GRCh38 |
| NC_000006.11:g.32634282A>G , CM000668.1:g.32634282A>G | GRCh37 |
| NC_000006.10:g.32742260A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434651.7:c.103T>C MANE Select | ENSP00000407332.2:p.Ser35Pro | |
| ENST00000374943.8:c.103T>C | ENSP00000364080.4:p.Ser35Pro | |
| ENST00000399079.7:c.103T>C | ENSP00000382029.3:p.Ser35Pro | |
| ENST00000399082.7:c.103T>C | ENSP00000382032.3:p.Ser35Pro | |
| ENST00000399084.5:c.103T>C | ENSP00000382034.1:p.Ser35Pro | |
| ENST00000434651.6:c.103T>C | ENSP00000407332.2:p.Ser35Pro | |
| ENST00000484729.2:c.103T>C | ENSP00000436686.1:p.Ser35Pro | |
| ENST00000487676.1:n.134T>C | ||
| NM_001243961.1:c.103T>C | NP_001230890.1:p.Ser35Pro | |
| NM_002123.4:c.103T>C | NP_002114.3:p.Ser35Pro | |
| NM_001243961.2:c.103T>C | NP_001230890.1:p.Ser35Pro | |
| NM_002123.5:c.103T>C MANE Select | NP_002114.3:p.Ser35Pro |