Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21222355C= , CM000674.2:g.21222355C= | GRCh38 |
| NC_000012.11:g.21375289C= , CM000674.1:g.21375289C= | GRCh37 |
| NC_000012.10:g.21266556C= | NCBI36 |
| NG_011745.1:g.96162C= , LRG_1022:g.96162C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.1738C= MANE Select | NP_006437.3:p.Arg580= |
| ENST00000256958.3:c.1738C= MANE Select | ENSP00000256958.2:p.Arg580= |
| NM_006446.4:c.1738C= , LRG_1022t1:c.1738C= | NP_006437.3:p.Arg580= |
| ENST00000256958.2:c.1738C= | ENSP00000256958.2:p.Arg580= |