dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48593342G>A , CM000679.2:g.48593342G>A | GRCh38 |
| NC_000017.10:g.46670704G>A , CM000679.1:g.46670704G>A | GRCh37 |
| NC_000017.9:g.44025703G>A | NCBI36 |
| NG_046953.1:g.16651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239151.6:c.341C>T (HOXB5) MANE Select | ENSP00000239151.4:p.Ala114Val | |
| ENST00000239151.5:c.341C>T (HOXB5) | ENSP00000239151.4:p.Ala114Val | |
| ENST00000552000.2:n.433+11138C>T (HOXB3) | ||
| NM_002147.3:c.341C>T (HOXB5) | NP_002138.1:p.Ala114Val | |
| NR_033201.2:n.170+2753G>A (HOXB-AS3) | ||
| NR_033202.2:n.170+2753G>A (HOXB-AS3) | ||
| NR_033203.1:n.73+978G>A (HOXB-AS3) | ||
| NR_033204.2:n.73+978G>A (HOXB-AS3) | ||
| NR_110329.1:n.73+978G>A (HOXB-AS3) | ||
| NR_110331.1:n.170+2753G>A (HOXB-AS3) | ||
| NM_002147.4:c.341C>T (HOXB5) MANE Select | NP_002138.1:p.Ala114Val |