Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26116768T>A , CM000668.2:g.26116768T>A | GRCh38 |
| NC_000006.11:g.26116996T>A , CM000668.1:g.26116996T>A | GRCh37 |
| NC_000006.10:g.26224975T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707188.1:c.390+6747A>T (H2BC4) | ENSP00000516775.1:n.390+6747A>T | |
| ENST00000314332.5:c.*10-1633A>T (H2BC4) | ENSP00000321744.4:n.*10-1633A>T | |
| ENST00000629531.1:c.132+7005A>T (H2BC3) | ENSP00000486472.1:n.132+7005A>T | |
| NM_001381989.1:c.*10-1633A>T (H2BC4) | NP_001368918.1:n.*10-1633A>T |