Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31276583G= , CM000681.2:g.31276583G= | GRCh38 |
| NC_000019.9:g.31767489G= , CM000681.1:g.31767489G= | GRCh37 |
| NC_000019.8:g.36459329G= | NCBI36 |
| NG_051203.1:g.77943C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020856.4:c.3210C= MANE Select | NP_065907.2:p.Asp1070= |
| ENST00000240587.5:c.3210C= MANE Select | ENSP00000240587.4:p.Asp1070= |
| NM_020856.2:c.3210C= | NP_065907.2:p.Asp1070= |
| NM_020856.3:c.3210C= | NP_065907.2:p.Asp1070= |
| NR_138035.1:n.347-48443C= | |
| NR_138035.2:n.258-48443C= | |
| NR_138036.1:n.347-48443C= | |
| NR_138036.2:n.258-48443C= | |
| ENST00000240587.4:c.3210C= | ENSP00000240587.4:p.Asp1070= |
| ENST00000651361.1:n.64-33708C= |