HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488532G>A , CM000674.2:g.52488532G>A | GRCh38 |
NC_000012.11:g.52882316G>A , CM000674.1:g.52882316G>A | GRCh37 |
NC_000012.10:g.51168583G>A | NCBI36 |
NG_008298.1:g.9866C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1220C>T MANE Select | ENSP00000369317.3:p.Ala407Val | |
ENST00000330722.6:c.1220C>T | ENSP00000369317.3:p.Ala407Val | |
NM_005554.3:c.1220C>T | NP_005545.1:p.Ala407Val | |
NM_005554.4:c.1220C>T MANE Select | NP_005545.1:p.Ala407Val |