COSMIC:
COSN17133504 (not active)
COSN17138057 (not active)
COSN17141583 (not active)
COSN17145595 (not active)
COSN17147389 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32489285 (AFR)
Genomes Max Group AF
0.31738401 (AFR)
Exomes Max Group AF
0.33118201 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11394598A>G , CM000674.2:g.11394598A>G | GRCh38 |
| NC_000012.11:g.11547532A>G , CM000674.1:g.11547532A>G | GRCh37 |
| NC_000012.10:g.11438799A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389362.6:c.65-68T>C (PRB2) MANE Select | ENSP00000374013.4:n.65-68T>C | |
| ENST00000389362.5:c.65-68T>C (PRB2) | ENSP00000374013.4:n.65-68T>C | |
| ENST00000545829.1:n.365-68T>C (PRB2) | ||
| ENST00000546254.3:c.65-68T>C (PRB1) | ENSP00000442127.2:n.65-68T>C | |
| NM_006248.3:c.65-68T>C (PRB2) | NP_006239.3:n.65-68T>C | |
| NM_006248.4:c.65-68T>C (PRB2) MANE Select | NP_006239.3:n.65-68T>C |