HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471201C>A , CM000677.2:g.40471201C>A | GRCh38 |
NC_000015.9:g.40763400C>A , CM000677.1:g.40763400C>A | GRCh37 |
NC_000015.8:g.38550692C>A | NCBI36 |
NG_017074.1:g.5241C>A , LRG_600:g.5241C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.-13C>A MANE Select | ENSP00000307297.6:n.-13C>A | |
ENST00000306243.6:c.-13C>A | ENSP00000307297.5:n.-13C>A | |
ENST00000559991.1:c.-13C>A | ENSP00000453882.1:n.-13C>A | |
NM_130468.3:c.-13C>A , LRG_600t1:c.-13C>A | NP_569735.1:n.-13C>A | |
NM_130468.4:c.-13C>A MANE Select | NP_569735.1:n.-13C>A |