HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044924T>A , CM000674.2:g.5044924T>A | GRCh38 |
NC_000012.11:g.5154090T>A , CM000674.1:g.5154090T>A | GRCh37 |
NC_000012.10:g.5024351T>A | NCBI36 |
NG_012198.1:g.6006T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.777T>A MANE Select | ENSP00000252321.3:p.Val259= | |
ENST00000252321.4:c.777T>A | ENSP00000252321.3:p.Val259= | |
NM_002234.3:c.777T>A | NP_002225.2:p.Val259= | |
NM_002234.4:c.777T>A MANE Select | NP_002225.2:p.Val259= |