HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96204949C>A , CM000676.2:g.96204949C>A | GRCh38 |
NC_000014.8:g.96671286C>A , CM000676.1:g.96671286C>A | GRCh37 |
NC_000014.7:g.95741039C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000554311.2:c.-50C>A MANE Select | ENSP00000450482.1:n.-50C>A | |
ENST00000539359.1:c.-292C>A | ENSP00000438376.1:n.-292C>A | |
ENST00000542454.2:c.-2818C>A | ENSP00000439459.2:n.-2818C>A | |
ENST00000553811.1:c.-45C>A | ENSP00000450984.1:n.-45C>A | |
ENST00000554311.1:c.-50C>A | ENSP00000450482.1:n.-50C>A | |
NM_000623.3:c.-45C>A | NP_000614.1:n.-45C>A | |
NM_000623.4:c.-45C>A | NP_000614.1:n.-45C>A | |
NM_001379692.1:c.-50C>A MANE Select | NP_001366621.1:n.-50C>A |