HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75135044G>A , CM000676.2:g.75135044G>A | GRCh38 |
NC_000014.8:g.75601747G>A , CM000676.1:g.75601747G>A | GRCh37 |
NC_000014.7:g.74671500G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000303575.9:c.539-38C>T MANE Select | ENSP00000303145.4:n.539-38C>T | |
ENST00000303575.8:c.539-38C>T | ENSP00000303145.4:n.539-38C>T | |
ENST00000555036.1:n.322-38C>T | ||
ENST00000555873.1:c.*175-38C>T | ENSP00000450726.1:n.*175-38C>T | |
ENST00000556969.5:n.246-38C>T | ||
ENST00000557670.5:n.267-38C>T | ||
NM_006827.5:c.539-38C>T | NP_006818.3:n.539-38C>T | |
NM_006827.6:c.539-38C>T MANE Select | NP_006818.3:n.539-38C>T |