HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102527685A>C , CM000673.2:g.102527685A>C | GRCh38 |
NC_000011.9:g.102398416A>C , CM000673.1:g.102398416A>C | GRCh37 |
NC_000011.8:g.101903626A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260227.5:c.336-13T>G MANE Select | ENSP00000260227.4:n.336-13T>G | |
ENST00000260227.4:c.336-13T>G | ENSP00000260227.4:n.336-13T>G | |
ENST00000531200.1:n.383-13T>G | ||
ENST00000533366.5:n.386-13T>G | ||
NM_002423.3:c.336-13T>G | NP_002414.1:n.336-13T>G | |
NM_002423.4:c.336-13T>G | NP_002414.1:n.336-13T>G | |
NM_002423.5:c.336-13T>G MANE Select | NP_002414.1:n.336-13T>G |