HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370635C= , CM000683.2:g.34370635C= | GRCh38 |
NC_000021.8:g.35742934C= , CM000683.1:g.35742934C= | GRCh37 |
NC_000021.7:g.34664804C= | NCBI36 |
NG_008804.1:g.11612C= , LRG_291:g.11612C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290310.4:c.157C= MANE Select | ENSP00000290310.2:p.Leu53= | |
ENST00000290310.3:c.157C= | ENSP00000290310.2:p.Leu53= | |
NM_172201.1:c.157C= , LRG_291t1:c.157C= | NP_751951.1:p.Leu53= | |
XR_937683.1:n.686G= | ||
XR_937684.1:n.686G= | ||
XR_001755012.2:n.807G= | ||
XR_001755013.2:n.686G= | ||
XR_937683.2:n.686G= | ||
NM_172201.2:c.157C= MANE Select | NP_751951.1:p.Leu53= |