HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780490C= , CM000679.2:g.6780490C= | GRCh38 |
NC_000017.10:g.6683809C= , CM000679.1:g.6683809C= | GRCh37 |
NC_000017.9:g.6624533C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.622C= MANE Select | ENSP00000321386.4:p.Leu208= | |
ENST00000321535.4:c.622C= | ENSP00000321386.4:p.Leu208= | |
NM_153230.2:c.622C= | NP_694962.1:p.Leu208= | |
XM_011523697.1:c.622C= | XP_011521999.1:p.Leu208= | |
XR_243544.3:n.800C= | ||
NM_153230.3:c.622C= MANE Select | NP_694962.1:p.Leu208= |