HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488282T>A , CM000674.2:g.52488282T>A | GRCh38 |
NC_000012.11:g.52882066T>A , CM000674.1:g.52882066T>A | GRCh37 |
NC_000012.10:g.51168333T>A | NCBI36 |
NG_008298.1:g.10116A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1424+46A>T MANE Select | ENSP00000369317.3:n.1424+46A>T | |
ENST00000330722.6:c.1424+46A>T | ENSP00000369317.3:n.1424+46A>T | |
NM_005554.3:c.1424+46A>T | NP_005545.1:n.1424+46A>T | |
NM_005554.4:c.1424+46A>T MANE Select | NP_005545.1:n.1424+46A>T |