HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102527673C>A , CM000673.2:g.102527673C>A | GRCh38 |
NC_000011.9:g.102398404C>A , CM000673.1:g.102398404C>A | GRCh37 |
NC_000011.8:g.101903614C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260227.5:c.336-1G>T MANE Select | ENSP00000260227.4:n.336-1G>T | |
ENST00000260227.4:c.336-1G>T | ENSP00000260227.4:n.336-1G>T | |
ENST00000531200.1:n.383-1G>T | ||
ENST00000533366.5:n.386-1G>T | ||
NM_002423.3:c.336-1G>T | NP_002414.1:n.336-1G>T | |
NM_002423.4:c.336-1G>T | NP_002414.1:n.336-1G>T | |
NM_002423.5:c.336-1G>T MANE Select | NP_002414.1:n.336-1G>T |