HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044963G>A , CM000674.2:g.5044963G>A | GRCh38 |
NC_000012.11:g.5154129G>A , CM000674.1:g.5154129G>A | GRCh37 |
NC_000012.10:g.5024390G>A | NCBI36 |
NG_012198.1:g.6045G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.816G>A MANE Select | ENSP00000252321.3:p.Leu272= | |
ENST00000252321.4:c.816G>A | ENSP00000252321.3:p.Leu272= | |
NM_002234.3:c.816G>A | NP_002225.2:p.Leu272= | |
NM_002234.4:c.816G>A MANE Select | NP_002225.2:p.Leu272= |