Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.27892786C>T , CM000668.2:g.27892786C>T | GRCh38 |
| NC_000006.11:g.27860564C>T , CM000668.1:g.27860564C>T | GRCh37 |
| NC_000006.10:g.27968543C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003514.2:c.364G>A (H2AC17) MANE Select | NP_003505.1:p.Glu122Lys |
| ENST00000359611.4:c.364G>A (H2AC17) MANE Select | ENSP00000352627.3:p.Glu122Lys |
| ENST00000359611.3:c.364G>A (H2AC17) | ENSP00000352627.2:p.Glu122Lys |
| ENST00000479986.1:n.321G>A (H3C12) |