Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52185013C>T , CM000677.2:g.52185013C>T | GRCh38 |
| NC_000015.9:g.52477210C>T , CM000677.1:g.52477210C>T | GRCh37 |
| NC_000015.8:g.50264502C>T | NCBI36 |
| NG_052868.1:g.11356G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016194.4:c.-18-319G>A (GNB5) MANE Select | NP_057278.2:n.-18-319G>A |
| ENST00000261837.12:c.-18-319G>A (GNB5) MANE Select | ENSP00000261837.7:n.-18-319G>A |
| NM_016194.3:c.-18-319G>A (GNB5) | NP_057278.2:n.-18-319G>A |
| NR_102751.1:n.529+3811C>T (CERNA1) | |
| ENST00000261837.11:c.-18-319G>A (GNB5) | ENSP00000261837.7:n.-18-319G>A |
| ENST00000560075.1:n.14-319G>A (GNB5) |