HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176886T>A , CM000674.2:g.21176886T>A | GRCh38 |
NC_000012.11:g.21329820T>A , CM000674.1:g.21329820T>A | GRCh37 |
NC_000012.10:g.21221087T>A | NCBI36 |
NG_011745.1:g.50693T>A , LRG_1022:g.50693T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.470T>A MANE Select | ENSP00000256958.2:p.Ile157Lys | |
ENST00000256958.2:c.470T>A | ENSP00000256958.2:p.Ile157Lys | |
ENST00000543498.5:c.536T>A | ||
NM_006446.4:c.470T>A , LRG_1022t1:c.470T>A | NP_006437.3:p.Ile157Lys | |
NM_006446.5:c.470T>A MANE Select | NP_006437.3:p.Ile157Lys |