HGVS | Genome Assembly |
---|---|
NC_000011.10:g.14000092T>G , CM000673.2:g.14000092T>G | GRCh38 |
NC_000011.9:g.14021639T>G , CM000673.1:g.14021639T>G | GRCh37 |
NC_000011.8:g.13978215T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000576479.4:c.345+17139T>G MANE Select | ENSP00000460236.1:n.345+17139T>G | |
ENST00000576479.3:c.345+17139T>G | ENSP00000460236.1:n.345+17139T>G | |
NM_006108.3:c.345+17139T>G | NP_006099.2:n.345+17139T>G | |
NM_006108.4:c.345+17139T>G MANE Select | NP_006099.2:n.345+17139T>G |