HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780553C>T , CM000679.2:g.6780553C>T | GRCh38 |
NC_000017.10:g.6683872C>T , CM000679.1:g.6683872C>T | GRCh37 |
NC_000017.9:g.6624596C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.685C>T MANE Select | ENSP00000321386.4:p.Leu229= | |
ENST00000321535.4:c.685C>T | ENSP00000321386.4:p.Leu229= | |
NM_153230.2:c.685C>T | NP_694962.1:p.Leu229= | |
XM_011523697.1:c.685C>T | XP_011521999.1:p.Leu229= | |
XR_243544.3:n.863C>T | ||
NM_153230.3:c.685C>T MANE Select | NP_694962.1:p.Leu229= |