HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399254C>G , CM000663.2:g.46399254C>G | GRCh38 |
NC_000001.10:g.46864926C>G , CM000663.1:g.46864926C>G | GRCh37 |
NC_000001.9:g.46637513C>G | NCBI36 |
NG_012195.1:g.9988C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000243167.9:c.196-2837C>G MANE Select | ENSP00000243167.8:n.196-2837C>G | |
ENST00000243167.8:c.196-2837C>G | ENSP00000243167.8:n.196-2837C>G | |
ENST00000468718.5:n.216-2837C>G | ||
ENST00000493735.5:n.174-2837C>G | ||
NM_001441.2:c.196-2837C>G | NP_001432.2:n.196-2837C>G | |
NM_001441.3:c.196-2837C>G MANE Select | NP_001432.2:n.196-2837C>G |