HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877117A= , CM000668.2:g.131877117A= | GRCh38 |
NC_000006.11:g.132198257A= , CM000668.1:g.132198257A= | GRCh37 |
NC_000006.10:g.132239950A= | NCBI36 |
NG_008206.1:g.74102A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.721A= | ||
ENST00000684536.1:n.347A= | ||
ENST00000647893.1:c.1849A= MANE Select | ENSP00000498074.1:p.Thr617= | |
ENST00000647981.1:n.534A= | ||
ENST00000650437.1:c.1340A= | ||
ENST00000360971.6:c.1849A= | ENSP00000354238.2:p.Thr617= | |
ENST00000459624.1:n.893A= | ||
ENST00000513998.5:c.*686A= | ENSP00000422424.1:n.*686A= | |
NM_006208.2:c.1849A= | NP_006199.2:p.Thr617= | |
XM_011535896.1:c.739A= | XP_011534198.1:p.Thr247= | |
NM_006208.3:c.1849A= MANE Select | NP_006199.2:p.Thr617= |