HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951836C>G , CM000670.2:g.19951836C>G | GRCh38 |
NC_000008.10:g.19809347C>G , CM000670.1:g.19809347C>G | GRCh37 |
NC_000008.9:g.19853627C>G | NCBI36 |
NG_008855.1:g.17766C>G | |
NG_008855.2:g.55120C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.317C>G MANE Select | ENSP00000497642.1:p.Ser106Cys | |
ENST00000311322.8:c.317C>G | ENSP00000309757.6:p.Ser106Cys | |
ENST00000520959.5:c.89C>G | ENSP00000428496.1:p.Ser30Cys | |
ENST00000522701.5:c.317C>G | ||
ENST00000524029.5:c.317C>G | ENSP00000428237.1:p.Ser106Cys | |
NM_000237.2:c.317C>G | NP_000228.1:p.Ser106Cys | |
NM_000237.3:c.317C>G MANE Select | NP_000228.1:p.Ser106Cys |