HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96242330T>A , CM000676.2:g.96242330T>A | GRCh38 |
NC_000014.8:g.96708667T>A , CM000676.1:g.96708667T>A | GRCh37 |
NC_000014.7:g.95778420T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000554311.2:c.*826T>A MANE Select | ENSP00000450482.1:n.*826T>A | |
ENST00000542454.2:c.*826T>A | ENSP00000439459.2:n.*826T>A | |
ENST00000553811.1:c.74+5149T>A | ENSP00000450984.1:n.74+5149T>A | |
ENST00000554311.1:c.*826T>A | ENSP00000450482.1:n.*826T>A | |
ENST00000555847.1:n.190T>A | ||
NM_000623.3:c.*826T>A | NP_000614.1:n.*826T>A | |
NM_000623.4:c.*826T>A | NP_000614.1:n.*826T>A | |
NM_001379692.1:c.*826T>A MANE Select | NP_001366621.1:n.*826T>A |