HGVS | Genome Assembly |
---|---|
NC_000007.14:g.131215307C= , CM000669.2:g.131215307C= | GRCh38 |
NC_000007.13:g.130900066C= , CM000669.1:g.130900066C= | GRCh37 |
NC_000007.12:g.130550606C= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000416992.6:c.-179+12333C= | ENSP00000387920.1:n.-179+12333C= | |
ENST00000421797.6:c.-179+72366C= | ENSP00000398094.2:n.-179+72366C= | |
NM_001145354.1:c.29+72366C= | NP_001138826.1:n.29+72366C= | |
XM_024446767.1:c.-179+12333C= | XP_024302535.1:n.-179+12333C= | |
NM_001145354.2:c.29+72366C= | NP_001138826.1:n.29+72366C= |