Linked Data
dbSNP Id:
rs2835285
gnomAD v2:
21-37507767-G-A
gnomAD v3:
21-36135469-G-A
gnomAD v4:
21-36135469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36135469G>A , CM000683.2:g.36135469G>A | GRCh38 |
| NC_000021.8:g.37507767G>A , CM000683.1:g.37507767G>A | GRCh37 |
| NC_000021.7:g.36429637G>A | NCBI36 |
| NG_052818.1:g.5569G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.277G>A (CBR3) MANE Select | ENSP00000290354.5:p.Val93Ile | |
| ENST00000290354.5:c.277G>A (CBR3) | ENSP00000290354.5:p.Val93Ile | |
| NM_001236.3:c.277G>A (CBR3) | NP_001227.1:p.Val93Ile | |
| NR_038892.1:n.193-1708C>T (CBR3-AS1) | ||
| NR_038893.1:n.193-2395C>T (CBR3-AS1) | ||
| XM_011529772.1:c.277G>A (CBR3) | XP_011528074.1:p.Val93Ile | |
| XM_011529772.2:c.277G>A (CBR3) | XP_011528074.1:p.Val93Ile | |
| NM_001236.4:c.277G>A (CBR3) MANE Select | NP_001227.1:p.Val93Ile |