Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26108054C= , CM000668.2:g.26108054C= | GRCh38 |
| NC_000006.11:g.26108282C= , CM000668.1:g.26108282C= | GRCh37 |
| NC_000006.10:g.26216261C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005323.4:c.40G= (H1-6) MANE Select | NP_005314.2:p.Val14= |
| ENST00000338379.6:c.40G= (H1-6) MANE Select | ENSP00000341214.5:p.Val14= |
| NM_005323.3:c.40G= (H1-6) | NP_005314.2:p.Val14= |
| ENST00000338379.5:c.40G= (H1-6) | ENSP00000341214.4:p.Val14= |
| ENST00000629531.1:c.132+15719G= (H2BC3) | ENSP00000486472.1:n.132+15719G= |
| ENST00000707188.1:c.390+15461G= (H2BC4) | ENSP00000516775.1:n.390+15461G= |