Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122867553A= , CM000673.2:g.122867553A= | GRCh38 |
| NC_000011.9:g.122738261A= , CM000673.1:g.122738261A= | GRCh37 |
| NC_000011.8:g.122243471A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019604.4:c.962A= MANE Select | NP_062550.2:p.Lys321= |
| ENST00000227348.9:c.962A= MANE Select | ENSP00000227348.4:p.Lys321= |
| NM_001304782.1:c.365A= | NP_001291711.1:p.Lys122= |
| NM_001304782.2:c.365A= | NP_001291711.1:p.Lys122= |
| NM_019604.3:c.962A= | NP_062550.2:p.Lys321= |
| ENST00000227348.8:c.962A= | ENSP00000227348.4:p.Lys321= |
| ENST00000533416.1:n.274A= | |
| ENST00000533709.1:c.365A= | ENSP00000433728.1:p.Lys122= |
| XM_011542900.1:c.809A= | XP_011541202.1:p.Lys270= |
| XM_011542900.2:c.809A= | XP_011541202.1:p.Lys270= |