HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832633G>A , CM000664.2:g.112832633G>A | GRCh38 |
NC_000002.11:g.113590210G>A , CM000664.1:g.113590210G>A | GRCh37 |
NC_000002.10:g.113306681G>A | NCBI36 |
NG_008851.1:g.9147C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.466+29C>T MANE Select | ENSP00000263341.2:n.466+29C>T | |
ENST00000263341.6:c.466+29C>T | ENSP00000263341.2:n.466+29C>T | |
ENST00000487639.1:n.367+29C>T | ||
ENST00000491056.5:n.1273+29C>T | ||
NM_000576.2:c.466+29C>T | NP_000567.1:n.466+29C>T | |
XM_006712496.1:c.232+29C>T | XP_006712559.1:n.232+29C>T | |
XM_017003988.2:c.373+29C>T | XP_016859477.1:n.373+29C>T | |
NM_000576.3:c.466+29C>T MANE Select | NP_000567.1:n.466+29C>T |