HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044942C>A , CM000674.2:g.5044942C>A | GRCh38 |
NC_000012.11:g.5154108C>A , CM000674.1:g.5154108C>A | GRCh37 |
NC_000012.10:g.5024369C>A | NCBI36 |
NG_012198.1:g.6024C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.795C>A MANE Select | ENSP00000252321.3:p.Ile265= | |
ENST00000252321.4:c.795C>A | ENSP00000252321.3:p.Ile265= | |
NM_002234.3:c.795C>A | NP_002225.2:p.Ile265= | |
NM_002234.4:c.795C>A MANE Select | NP_002225.2:p.Ile265= |