Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52184616G>A , CM000677.2:g.52184616G>A | GRCh38 |
| NC_000015.9:g.52476813G>A , CM000677.1:g.52476813G>A | GRCh37 |
| NC_000015.8:g.50264105G>A | NCBI36 |
| NG_052868.1:g.11753C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016194.4:c.61C>T (GNB5) MANE Select | NP_057278.2:p.Arg21Ter |
| ENST00000261837.12:c.61C>T (GNB5) MANE Select | ENSP00000261837.7:p.Arg21Ter |
| NM_016194.3:c.61C>T (GNB5) | NP_057278.2:p.Arg21Ter |
| NR_102751.1:n.529+3414G>A (CERNA1) | |
| ENST00000261837.11:c.61C>T (GNB5) | ENSP00000261837.7:p.Arg21Ter |
| ENST00000560075.1:n.92C>T (GNB5) |