HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40789460C>G , CM000675.2:g.40789460C>G | GRCh38 |
NC_000013.10:g.41363596C>G , CM000675.1:g.41363596C>G | GRCh37 |
NC_000013.9:g.40261596C>G | NCBI36 |
NG_012248.1:g.5050C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000478827.1:n.49C>G | ||
NM_014252.3:c.-273C>G | NP_055067.1:n.-273C>G |