Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218809700C= , CM000664.2:g.218809700C= | GRCh38 |
| NC_000002.11:g.219674423C= , CM000664.1:g.219674423C= | GRCh37 |
| NC_000002.10:g.219382667C= | NCBI36 |
| NG_007959.1:g.32952C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.379C= MANE Select | NP_000775.1:p.Arg127= |
| ENST00000258415.9:c.379C= MANE Select | ENSP00000258415.4:p.Arg127= |
| NM_000784.3:c.379C= | NP_000775.1:p.Arg127= |
| ENST00000258415.8:c.379C= | ENSP00000258415.4:p.Arg127= |
| ENST00000411688.1:c.97C= | ENSP00000392671.1:p.Arg33= |
| ENST00000445971.1:c.256-2522C= | ENSP00000404945.1:n.256-2522C= |
| ENST00000466602.1:n.265-2522C= | |
| ENST00000494263.5:n.813C= | |
| XM_017003488.2:c.27-2522C= | XP_016858977.1:n.27-2522C= |