HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112086731C>A , CM000673.2:g.112086731C>A | GRCh38 |
NC_000011.9:g.111957455C>A , CM000673.1:g.111957455C>A | GRCh37 |
NC_000011.8:g.111462665C>A | NCBI36 |
NG_012337.2:g.4885C>A | |
NG_033145.1:g.5068G>T | |
NG_012337.3:g.4885C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000504148.3:c.-8G>T MANE Select | ENSP00000422122.2:n.-8G>T | |
ENST00000504148.2:c.-8G>T | ENSP00000422122.2:n.-8G>T | |
ENST00000509359.6:c.-8G>T | ENSP00000421964.2:n.-8G>T | |
ENST00000541231.1:c.38G>T | ENSP00000438455.1:p.Arg13Met | |
NM_012459.2:c.38G>T | NP_036591.2:p.Arg13Met | |
NR_028383.1:n.68G>T | ||
NM_012459.3:c.-8G>T | NP_036591.3:n.-8G>T | |
NR_028383.2:n.26G>T | ||
NR_160400.1:n.26G>T | ||
NM_012459.4:c.-8G>T MANE Select | NP_036591.3:n.-8G>T |