Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965968C= , CM000670.2:g.37965968C= | GRCh38 |
| NC_000008.10:g.37823486C= , CM000670.1:g.37823486C= | GRCh37 |
| NC_000008.9:g.37942643C= | NCBI36 |
| NG_011936.1:g.5699G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.502G= MANE Select | NP_000016.1:p.Val168= |
| ENST00000345060.5:c.502G= MANE Select | ENSP00000343782.3:p.Val168= |
| NM_000025.2:c.502G= | NP_000016.1:p.Val168= |
| ENST00000345060.4:c.502G= | ENSP00000343782.3:p.Val168= |
| ENST00000520341.2:n.630G= | |
| ENST00000614635.1:c.502G= | ENSP00000480325.1:p.Val168= |