HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19960913C>G , CM000670.2:g.19960913C>G | GRCh38 |
NC_000008.10:g.19818424C>G , CM000670.1:g.19818424C>G | GRCh37 |
NC_000008.9:g.19862704C>G | NCBI36 |
NG_008855.1:g.26843C>G | |
NG_008855.2:g.64197C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1152C>G MANE Select | ENSP00000497642.1:p.Ser384= | |
ENST00000650478.1:c.92C>G | ENSP00000497560.1:p.Pro31Arg | |
ENST00000311322.8:c.1152C>G | ENSP00000309757.6:p.Ser384= | |
NM_000237.2:c.1152C>G | NP_000228.1:p.Ser384= | |
NM_000237.3:c.1152C>G MANE Select | NP_000228.1:p.Ser384= |