HGVS | Genome Assembly |
---|---|
NC_000007.14:g.20164306C>A , CM000669.2:g.20164306C>A | GRCh38 |
NC_000007.13:g.20203929C>A , CM000669.1:g.20203929C>A | GRCh37 |
NC_000007.12:g.20170454C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400331.10:c.-59G>T MANE Select | ENSP00000383185.3:n.-59G>T | |
ENST00000332878.8:c.-8-2436G>T | ENSP00000328410.4:n.-8-2436G>T | |
ENST00000400331.9:c.-59G>T | ENSP00000383185.3:n.-59G>T | |
ENST00000589011.1:c.-8-2436G>T | ENSP00000466864.1:n.-8-2436G>T | |
NM_182762.3:c.-59G>T | NP_877439.3:n.-59G>T | |
NM_182762.4:c.-59G>T MANE Select | NP_877439.3:n.-59G>T |