HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27095701T>A , CM000669.2:g.27095701T>A | GRCh38 |
NC_000007.13:g.27135320T>A , CM000669.1:g.27135320T>A | GRCh37 |
NC_000007.12:g.27101845T>A | NCBI36 |
NG_011813.1:g.5306A>T | |
NG_033087.1:g.4608T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643460.2:c.212A>T MANE Select | ENSP00000494260.2:p.His71Leu | |
ENST00000343060.4:c.212A>T | ENSP00000343246.4:p.His71Leu | |
ENST00000355633.5:c.212A>T | ENSP00000347851.5:p.His71Leu | |
NM_005522.4:c.212A>T | NP_005513.1:p.His71Leu | |
NM_153620.2:c.212A>T | NP_705873.2:p.His71Leu | |
NM_005522.5:c.212A>T MANE Select | NP_005513.2:p.His71Leu | |
NM_153620.3:c.212A>T | NP_705873.3:p.His71Leu |