HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35797780C>G , CM000668.2:g.35797780C>G | GRCh38 |
NC_000006.11:g.35765557C>G , CM000668.1:g.35765557C>G | GRCh37 |
NC_000006.10:g.35873535C>G | NCBI36 |
NG_012184.3:g.5575C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651132.1:c.-255+321C>G | ENSP00000498322.1:n.-255+321C>G | |
XM_011514403.1:c.-135+321C>G | XP_011512705.1:n.-135+321C>G |