HGVS | Genome Assembly |
---|---|
NC_000020.11:g.38363528C>T , CM000682.2:g.38363528C>T | GRCh38 |
NC_000020.10:g.36992182C>T , CM000682.1:g.36992182C>T | GRCh37 |
NC_000020.9:g.36425596C>T | NCBI36 |
NG_034239.1:g.22118C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217407.3:c.653-447C>T MANE Select | ENSP00000217407.2:n.653-447C>T | |
ENST00000217407.2:c.653-447C>T | ENSP00000217407.2:n.653-447C>T | |
NM_004139.4:c.653-447C>T | NP_004130.2:n.653-447C>T | |
NM_004139.5:c.653-447C>T MANE Select | NP_004130.2:n.653-447C>T |