HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122471854C>T , CM000672.2:g.122471854C>T | GRCh38 |
NC_000010.10:g.124231370C>T , CM000672.1:g.124231370C>T | GRCh37 |
NC_000010.9:g.124221360C>T | NCBI36 |
NG_011554.1:g.15330C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.472+9730C>T MANE Select | ENSP00000357980.3:n.472+9730C>T | |
ENST00000648167.1:c.154+13145C>T | ENSP00000498033.1:n.154+13145C>T | |
ENST00000368984.7:c.472+9730C>T | ENSP00000357980.3:n.472+9730C>T | |
NM_002775.4:c.472+9730C>T | NP_002766.1:n.472+9730C>T | |
NM_002775.5:c.472+9730C>T MANE Select | NP_002766.1:n.472+9730C>T |