HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518065C= , CM000666.2:g.3518065C= | GRCh38 |
NC_000004.11:g.3519792C= , CM000666.1:g.3519792C= | GRCh37 |
NC_000004.10:g.3489590C= | NCBI36 |
NG_033873.1:g.19433G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.720G= | ENSP00000496947.1:p.Arg240= | |
ENST00000650182.1:c.720G= MANE Select | ENSP00000497444.1:p.Arg240= | |
ENST00000296325.9:n.683G= | ||
ENST00000500728.2:c.720G= | ENSP00000421922.1:p.Arg240= | |
ENST00000509198.1:n.766G= | ||
ENST00000515119.5:c.*497G= | ENSP00000421648.1:n.*497G= | |
NM_002337.3:c.720G= | NP_002328.1:p.Arg240= | |
NR_110005.1:n.683G= | ||
NM_002337.4:c.720G= MANE Select | NP_002328.1:p.Arg240= | |
XR_002959730.1:n.805G= | ||
NR_110005.2:n.683G= |