Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575931T= , CM000670.2:g.86575931T= | GRCh38 |
| NC_000008.10:g.87588159T= , CM000670.1:g.87588159T= | GRCh37 |
| NC_000008.9:g.87657275T= | NCBI36 |
| NG_016980.1:g.172745A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2303A= MANE Select | ENSP00000316605.5:p.His768= | |
| ENST00000681546.1:n.2123A= | ||
| ENST00000681746.1:c.*714A= | ENSP00000505959.1:n.*714A= | |
| ENST00000320005.5:c.2303A= | ENSP00000316605.5:p.His768= | |
| ENST00000517327.5:c.276+2758A= | ENSP00000428329.1:n.276+2758A= | |
| NM_019098.4:c.2303A= | NP_061971.3:p.His768= | |
| XM_011517138.1:c.1889A= | XP_011515440.1:p.His630= | |
| XM_011517138.2:c.1889A= | XP_011515440.1:p.His630= | |
| NM_019098.5:c.2303A= MANE Select | NP_061971.3:p.His768= |