HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40405741C>G , CM000677.2:g.40405741C>G | GRCh38 |
NC_000015.9:g.40697942C>G , CM000677.1:g.40697942C>G | GRCh37 |
NC_000015.8:g.38485234C>G | NCBI36 |
NG_011986.1:g.5257C>G | |
NG_011986.2:g.5257C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650656.1:c.-78C>G | ENSP00000498731.1:n.-78C>G | |
ENST00000651168.1:c.-78C>G | ENSP00000499074.1:n.-78C>G | |
NM_001159508.1:c.-78C>G | NP_001152980.1:n.-78C>G | |
NM_002225.3:c.-78C>G | NP_002216.2:n.-78C>G | |
XR_429453.2:n.24C>G |