HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565583A= , CM000682.2:g.57565583A= | GRCh38 |
NC_000020.10:g.56140639A= , CM000682.1:g.56140639A= | GRCh37 |
NC_000020.9:g.55574045A= | NCBI36 |
NG_008205.1:g.9503A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1648A= MANE Select | ENSP00000319814.4:p.Thr550= | |
ENST00000319441.5:c.1648A= | ENSP00000319814.4:p.Thr550= | |
ENST00000467047.1:n.4290A= | ||
NM_002591.3:c.1648A= | NP_002582.3:p.Thr550= | |
XM_011528839.1:c.1252A= | XP_011527141.1:p.Thr418= | |
XM_024451888.1:c.1252A= | XP_024307656.1:p.Thr418= | |
NM_002591.4:c.1648A= MANE Select | NP_002582.3:p.Thr550= |