HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24258914C>T , CM000676.2:g.24258914C>T | GRCh38 |
NC_000014.8:g.24728120C>T , CM000676.1:g.24728120C>T | GRCh37 |
NC_000014.7:g.23797960C>T | NCBI36 |
NG_007150.1:g.9253G>A | |
NG_007150.2:g.9253G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.1159+161G>A MANE Select | ENSP00000206765.6:n.1159+161G>A | |
ENST00000206765.10:c.1159+161G>A | ENSP00000206765.6:n.1159+161G>A | |
ENST00000544573.5:c.-28-526G>A | ENSP00000439446.1:n.-28-526G>A | |
ENST00000559136.1:c.232+161G>A | ENSP00000453337.1:n.232+161G>A | |
NM_000359.2:c.1159+161G>A | NP_000350.1:n.1159+161G>A | |
NM_000359.3:c.1159+161G>A MANE Select | NP_000350.1:n.1159+161G>A |