Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5242453C= , CM000673.2:g.5242453C= | GRCh38 |
| NC_000011.9:g.5263683C= , CM000673.1:g.5263683C= | GRCh37 |
| NC_000011.8:g.5220259C= | NCBI36 |
| NG_000007.3:g.55163G= | |
| NG_063112.2:g.6205G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001589.1:n.367-206G= (HBBP1) | |
| ENST00000433329.1:n.312-206G= (HBBP1) | |
| ENST00000454892.1:n.162-206G= (HBBP1) | |
| ENST00000454892.2:n.308-206G= (HBBP1) | |
| ENST00000643122.1:c.-29+997G= (HBD) | ENSP00000494708.1:n.-29+997G= |