HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122471968C>G , CM000672.2:g.122471968C>G | GRCh38 |
NC_000010.10:g.124231484C>G , CM000672.1:g.124231484C>G | GRCh37 |
NC_000010.9:g.124221474C>G | NCBI36 |
NG_011554.1:g.15444C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.472+9844C>G MANE Select | ENSP00000357980.3:n.472+9844C>G | |
ENST00000648167.1:c.154+13259C>G | ENSP00000498033.1:n.154+13259C>G | |
ENST00000368984.7:c.472+9844C>G | ENSP00000357980.3:n.472+9844C>G | |
NM_002775.4:c.472+9844C>G | NP_002766.1:n.472+9844C>G | |
NM_002775.5:c.472+9844C>G MANE Select | NP_002766.1:n.472+9844C>G |