Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26108054C>A , CM000668.2:g.26108054C>A | GRCh38 |
| NC_000006.11:g.26108282C>A , CM000668.1:g.26108282C>A | GRCh37 |
| NC_000006.10:g.26216261C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005323.4:c.40G>T (H1-6) MANE Select | NP_005314.2:p.Val14Leu |
| ENST00000338379.6:c.40G>T (H1-6) MANE Select | ENSP00000341214.5:p.Val14Leu |
| NM_005323.3:c.40G>T (H1-6) | NP_005314.2:p.Val14Leu |
| ENST00000338379.5:c.40G>T (H1-6) | ENSP00000341214.4:p.Val14Leu |
| ENST00000629531.1:c.132+15719G>T (H2BC3) | ENSP00000486472.1:n.132+15719G>T |
| ENST00000707188.1:c.390+15461G>T (H2BC4) | ENSP00000516775.1:n.390+15461G>T |