Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38275988C= , CM000665.2:g.38275988C= | GRCh38 |
| NC_000003.11:g.38317479C= , CM000665.1:g.38317479C= | GRCh37 |
| NC_000003.10:g.38292483C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004256.4:c.1129C= MANE Select | NP_004247.2:p.Arg377= |
| ENST00000311856.9:c.1129C= MANE Select | ENSP00000310241.3:p.Arg377= |
| NM_004256.3:c.1129C= | NP_004247.2:p.Arg377= |
| ENST00000311856.8:c.1129C= | ENSP00000310241.3:p.Arg377= |
| ENST00000415844.1:c.929C= | ENSP00000395106.1:n.929C= |
| XM_011534248.1:c.430C= | XP_011532550.1:p.Arg144= |
| XM_017007519.1:c.418C= | XP_016863008.1:p.Arg140= |
| XR_001740370.1:n.1178C= |