MyVariant.info:
GRCh37
chr21:g.37444973C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36072675C>A , CM000683.2:g.36072675C>A | GRCh38 |
| NC_000021.8:g.37444973C>A , CM000683.1:g.37444973C>A | GRCh37 |
| NC_000021.7:g.36366843C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290349.11:c.627C>A (CBR1) MANE Select | ENSP00000290349.6:p.Ala209= | |
| ENST00000290349.10:c.627C>A (CBR1) | ENSP00000290349.6:p.Ala209= | |
| ENST00000399201.5:c.-203+6630G>T (SETD4) | ENSP00000382152.1:n.-203+6630G>T | |
| ENST00000530908.5:c.*736C>A (CBR1) | ENSP00000434613.1:n.*736C>A | |
| NM_001286789.1:c.*736C>A (CBR1) | NP_001273718.1:n.*736C>A | |
| NM_001757.3:c.627C>A (CBR1) | NP_001748.1:p.Ala209= | |
| NR_040084.1:n.378-2190G>T (CBR1-AS1) | ||
| NM_001757.4:c.627C>A (CBR1) MANE Select | NP_001748.1:p.Ala209= | |
| NM_001286789.2:c.*736C>A (CBR1) | NP_001273718.1:n.*736C>A |