Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227063G= , CM000664.2:g.29227063G= | GRCh38 |
| NC_000002.11:g.29449929G= , CM000664.1:g.29449929G= | GRCh37 |
| NC_000002.10:g.29303433G= | NCBI36 |
| NG_009445.1:g.699504C= , LRG_488:g.699504C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2926C= MANE Select | ENSP00000373700.3:p.His976= | |
| ENST00000431873.6:c.92C= | ||
| ENST00000389048.7:c.2926C= | ENSP00000373700.3:p.His976= | |
| ENST00000618119.4:c.1795C= | ENSP00000482733.1:p.His599= | |
| NM_004304.4:c.2926C= | NP_004295.2:p.His976= | |
| XM_024452778.1:c.79C= | XP_024308546.1:p.His27= | |
| XR_001738688.2:n.3782C= | ||
| NM_004304.5:c.2926C= MANE Select | NP_004295.2:p.His976= |