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