HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40789429C>G , CM000675.2:g.40789429C>G | GRCh38 |
NC_000013.10:g.41363565C>G , CM000675.1:g.41363565C>G | GRCh37 |
NC_000013.9:g.40261565C>G | NCBI36 |
NG_012248.1:g.5019C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000478827.1:n.18C>G | ||
NM_014252.3:c.-304C>G | NP_055067.1:n.-304C>G |