HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44160414G>A , CM000682.2:g.44160414G>A | GRCh38 |
NC_000020.10:g.42789054G>A , CM000682.1:g.42789054G>A | GRCh37 |
NC_000020.9:g.42222468G>A | NCBI36 |
NG_031867.1:g.32165C>T , LRG_394:g.32165C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372980.4:c.380-7C>T MANE Select | ENSP00000362071.3:n.380-7C>T | |
ENST00000372980.3:c.380-7C>T | ENSP00000362071.3:n.380-7C>T | |
NM_020433.4:c.380-7C>T , LRG_394t1:c.380-7C>T | NP_065166.2:n.380-7C>T | |
XM_006723832.2:c.380-7C>T | XP_006723895.1:n.380-7C>T | |
NM_020433.5:c.380-7C>T MANE Select | NP_065166.2:n.380-7C>T |