HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045929G>T , CM000674.2:g.5045929G>T | GRCh38 |
NC_000012.11:g.5155095G>T , CM000674.1:g.5155095G>T | GRCh37 |
NC_000012.10:g.5025356G>T | NCBI36 |
NG_012198.1:g.7011G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1782G>T MANE Select | ENSP00000252321.3:p.Val594= | |
ENST00000252321.4:c.1782G>T | ENSP00000252321.3:p.Val594= | |
NM_002234.3:c.1782G>T | NP_002225.2:p.Val594= | |
NM_002234.4:c.1782G>T MANE Select | NP_002225.2:p.Val594= |