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 |
|---|---|
| NM_006248.4:c.65-68T>C (PRB2) MANE Select | NP_006239.3:n.65-68T>C |
| ENST00000389362.6:c.65-68T>C (PRB2) MANE Select | ENSP00000374013.4:n.65-68T>C |
| NM_006248.3:c.65-68T>C (PRB2) | NP_006239.3: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 |