HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42086283T>A , CM000677.2:g.42086283T>A | GRCh38 |
NC_000015.9:g.42378481T>A , CM000677.1:g.42378481T>A | GRCh37 |
NC_000015.8:g.40165773T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290472.4:c.317A>T MANE Select | ENSP00000290472.3:p.Lys106Met | |
ENST00000290472.3:c.317A>T | ENSP00000290472.3:p.Lys106Met | |
NM_178034.3:c.317A>T | NP_828848.3:p.Lys106Met | |
XM_011521467.1:c.149A>T | XP_011519769.1:p.Lys50Met | |
XR_931798.1:n.417A>T | ||
XM_011521467.2:c.149A>T | XP_011519769.1:p.Lys50Met | |
XR_931798.2:n.417A>T | ||
NM_178034.4:c.317A>T MANE Select | NP_828848.3:p.Lys106Met |