Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.77696483C>G , CM000669.2:g.77696483C>G | GRCh38 |
| NC_000007.13:g.77325800C>G , CM000669.1:g.77325800C>G | GRCh37 |
| NC_000007.12:g.77163736C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334955.13:c.14C>G (RSBN1L) MANE Select | ENSP00000334040.7:p.Pro5Arg | |
| ENST00000334955.12:c.14C>G (RSBN1L) | ENSP00000334040.7:p.Pro5Arg | |
| ENST00000614027.4:c.14C>G (RSBN1L) | ENSP00000484678.1:p.Pro5Arg | |
| NM_198467.2:c.14C>G (RSBN1L) | NP_940869.2:p.Pro5Arg | |
| NR_038361.1:n.863G>C (APTR) | ||
| NM_198467.3:c.14C>G (RSBN1L) MANE Select | NP_940869.2:p.Pro5Arg |