Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763942C= , CM000673.2:g.763942C= | GRCh38 |
| NC_000011.9:g.763942C= , CM000673.1:g.763942C= | GRCh37 |
| NC_000011.8:g.753942C= | NCBI36 |
| NG_008160.1:g.21511C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.833C= MANE Select | ENSP00000321259.3:p.Ala278= | |
| ENST00000319006.7:c.833C= | ENSP00000321259.3:p.Ala278= | |
| ENST00000528097.5:c.831+2C= | ENSP00000437098.1:n.831+2C= | |
| NM_006755.1:c.833C= | NP_006746.1:p.Ala278= | |
| NM_006755.2:c.833C= MANE Select | NP_006746.1:p.Ala278= |