HGVS | Genome Assembly |
---|---|
NC_000007.14:g.20164442G>T , CM000669.2:g.20164442G>T | GRCh38 |
NC_000007.13:g.20204065G>T , CM000669.1:g.20204065G>T | GRCh37 |
NC_000007.12:g.20170590G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400331.10:c.-152-43C>A MANE Select | ENSP00000383185.3:n.-152-43C>A | |
ENST00000332878.8:c.-8-2572C>A | ENSP00000328410.4:n.-8-2572C>A | |
ENST00000400331.9:c.-152-43C>A | ENSP00000383185.3:n.-152-43C>A | |
ENST00000471019.1:n.274-43C>A | ||
ENST00000589011.1:c.-8-2572C>A | ENSP00000466864.1:n.-8-2572C>A | |
NM_182762.3:c.-152-43C>A | NP_877439.3:n.-152-43C>A | |
NM_182762.4:c.-152-43C>A MANE Select | NP_877439.3:n.-152-43C>A |