Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622720T= , CM000670.2:g.10622720T= | GRCh38 |
| NC_000008.10:g.10480230T= , CM000670.1:g.10480230T= | GRCh37 |
| NC_000008.9:g.10517640T= | NCBI36 |
| NG_028035.1:g.37388A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.482A= MANE Select | ENSP00000371923.3:p.Asp161= | |
| ENST00000329335.3:n.732A= | ||
| ENST00000382483.3:c.482A= | ENSP00000371923.3:p.Asp161= | |
| NM_178857.5:c.482A= | NP_849188.4:p.Asp161= | |
| NM_178857.6:c.482A= MANE Select | NP_849188.4:p.Asp161= |