HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45987175G= , CM000683.2:g.45987175G= | GRCh38 |
NC_000021.8:g.47407089G= , CM000683.1:g.47407089G= | GRCh37 |
NC_000021.7:g.46231517G= | NCBI36 |
NG_008674.1:g.10427G= , LRG_475:g.10427G= |
HGVS | Amino-acid Change |
---|---|
NM_001848.3:c.738G= MANE Select | NP_001839.2:p.Val246= |
ENST00000361866.8:c.738G= MANE Select | ENSP00000355180.3:p.Val246= |
NM_001848.2:c.738G= , LRG_475t1:c.738G= | NP_001839.2:p.Val246= |
ENST00000361866.7:c.738G= | ENSP00000355180.3:p.Val246= |
ENST00000492851.1:n.67G= | |
ENST00000612273.1:c.738G= | ENSP00000483630.1:p.Val246= |