HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877065T= , CM000668.2:g.131877065T= | GRCh38 |
NC_000006.11:g.132198205T= , CM000668.1:g.132198205T= | GRCh37 |
NC_000006.10:g.132239898T= | NCBI36 |
NG_008206.1:g.74050T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683687.1:n.669T= | ||
ENST00000684536.1:n.295T= | ||
ENST00000647893.1:c.1797T= MANE Select | ENSP00000498074.1:p.Val599= | |
ENST00000647981.1:n.482T= | ||
ENST00000650437.1:c.1288T= | ||
ENST00000360971.6:c.1797T= | ENSP00000354238.2:p.Val599= | |
ENST00000459624.1:n.841T= | ||
ENST00000513998.5:c.*634T= | ENSP00000422424.1:n.*634T= | |
NM_006208.2:c.1797T= | NP_006199.2:p.Val599= | |
XM_011535896.1:c.687T= | XP_011534198.1:p.Val229= | |
NM_006208.3:c.1797T= MANE Select | NP_006199.2:p.Val599= |