HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176836C>A , CM000674.2:g.21176836C>A | GRCh38 |
NC_000012.11:g.21329770C>A , CM000674.1:g.21329770C>A | GRCh37 |
NC_000012.10:g.21221037C>A | NCBI36 |
NG_011745.1:g.50643C>A , LRG_1022:g.50643C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.420C>A MANE Select | ENSP00000256958.2:p.Ser140= | |
ENST00000256958.2:c.420C>A | ENSP00000256958.2:p.Ser140= | |
ENST00000543498.5:c.486C>A | ||
NM_006446.4:c.420C>A , LRG_1022t1:c.420C>A | NP_006437.3:p.Ser140= | |
NM_006446.5:c.420C>A MANE Select | NP_006437.3:p.Ser140= |