HGVS | Genome Assembly |
---|---|
NC_000007.14:g.20164441G= , CM000669.2:g.20164441G= | GRCh38 |
NC_000007.13:g.20204064G= , CM000669.1:g.20204064G= | GRCh37 |
NC_000007.12:g.20170589G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400331.10:c.-152-42C= MANE Select | ENSP00000383185.3:n.-152-42C= | |
ENST00000332878.8:c.-8-2571C= | ENSP00000328410.4:n.-8-2571C= | |
ENST00000400331.9:c.-152-42C= | ENSP00000383185.3:n.-152-42C= | |
ENST00000471019.1:n.274-42C= | ||
ENST00000589011.1:c.-8-2571C= | ENSP00000466864.1:n.-8-2571C= | |
NM_182762.3:c.-152-42C= | NP_877439.3:n.-152-42C= | |
NM_182762.4:c.-152-42C= MANE Select | NP_877439.3:n.-152-42C= |