HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562947G= , CM000682.2:g.57562947G= | GRCh38 |
NC_000020.10:g.56138003G= , CM000682.1:g.56138003G= | GRCh37 |
NC_000020.9:g.55571409G= | NCBI36 |
NG_008205.1:g.6867G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.610+48G= MANE Select | ENSP00000319814.4:n.610+48G= | |
ENST00000319441.5:c.610+48G= | ENSP00000319814.4:n.610+48G= | |
ENST00000467047.1:n.1868G= | ||
ENST00000470051.1:n.114G= | ||
ENST00000498194.1:n.552+48G= | ||
NM_002591.3:c.610+48G= | NP_002582.3:n.610+48G= | |
XM_011528839.1:c.214+48G= | XP_011527141.1:n.214+48G= | |
XM_024451888.1:c.214+48G= | XP_024307656.1:n.214+48G= | |
NM_002591.4:c.610+48G= MANE Select | NP_002582.3:n.610+48G= |