Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66704051C>G , CM000677.2:g.66704051C>G | GRCh38 |
| NC_000015.9:g.66996389C>G , CM000677.1:g.66996389C>G | GRCh37 |
| NC_000015.8:g.64783443C>G | NCBI36 |
| NG_012244.1:g.6716C>G | |
| NG_012244.2:g.6716C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.793C>G MANE Select | NP_005576.3:p.His265Asp |
| ENST00000288840.10:c.793C>G MANE Select | ENSP00000288840.5:p.His265Asp |
| NM_005585.4:c.793C>G | NP_005576.3:p.His265Asp |
| NR_027654.1:n.1716C>G | |
| NR_027654.2:n.1816C>G | |
| ENST00000288840.9:c.793C>G | ENSP00000288840.5:p.His265Asp |
| ENST00000557916.5:c.793C>G | ENSP00000452955.1:p.His265Asp |
| ENST00000612349.1:n.975C>G | |
| XR_931825.1:n.1952C>G | |
| XR_931826.1:n.1952C>G | |
| XR_931827.1:n.1952C>G | |
| XR_931827.2:n.1942C>G |