HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370729A>T , CM000683.2:g.34370729A>T | GRCh38 |
NC_000021.8:g.35743028A>T , CM000683.1:g.35743028A>T | GRCh37 |
NC_000021.7:g.34664898A>T | NCBI36 |
NG_008804.1:g.11706A>T , LRG_291:g.11706A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290310.4:c.251A>T MANE Select | ENSP00000290310.2:p.Tyr84Phe | |
ENST00000290310.3:c.251A>T | ENSP00000290310.2:p.Tyr84Phe | |
NM_172201.1:c.251A>T , LRG_291t1:c.251A>T | NP_751951.1:p.Tyr84Phe | |
XR_937683.1:n.592T>A | ||
XR_937684.1:n.592T>A | ||
XR_001755012.2:n.713T>A | ||
XR_001755013.2:n.592T>A | ||
XR_937683.2:n.592T>A | ||
NM_172201.2:c.251A>T MANE Select | NP_751951.1:p.Tyr84Phe |