HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57564726T= , CM000682.2:g.57564726T= | GRCh38 |
NC_000020.10:g.56139782T= , CM000682.1:g.56139782T= | GRCh37 |
NC_000020.9:g.55573188T= | NCBI36 |
NG_008205.1:g.8646T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1318+113T= MANE Select | ENSP00000319814.4:n.1318+113T= | |
ENST00000319441.5:c.1318+113T= | ENSP00000319814.4:n.1318+113T= | |
ENST00000467047.1:n.3647T= | ||
ENST00000485958.1:n.442+113T= | ||
NM_002591.3:c.1318+113T= | NP_002582.3:n.1318+113T= | |
XM_011528839.1:c.922+113T= | XP_011527141.1:n.922+113T= | |
XM_024451888.1:c.922+113T= | XP_024307656.1:n.922+113T= | |
NM_002591.4:c.1318+113T= MANE Select | NP_002582.3:n.1318+113T= |