Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144331A= , CM000670.2:g.38144331A= | GRCh38 |
| NC_000008.10:g.38001849A= , CM000670.1:g.38001849A= | GRCh37 |
| NC_000008.9:g.38121006A= | NCBI36 |
| NG_011827.1:g.11752T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.800T= MANE Select | ENSP00000276449.3:p.Phe267= | |
| ENST00000276449.8:c.800T= | ENSP00000276449.3:p.Phe267= | |
| ENST00000520114.1:n.2769T= | ||
| ENST00000522050.1:c.642T= | ||
| NM_000349.2:c.800T= | NP_000340.2:p.Phe267= | |
| XM_006716392.1:c.706T= | XP_006716455.1:p.Leu236= | |
| NM_000349.3:c.800T= MANE Select | NP_000340.2:p.Phe267= |