HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19960931C>A , CM000670.2:g.19960931C>A | GRCh38 |
NC_000008.10:g.19818442C>A , CM000670.1:g.19818442C>A | GRCh37 |
NC_000008.9:g.19862722C>A | NCBI36 |
NG_008855.1:g.26861C>A | |
NG_008855.2:g.64215C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1170C>A MANE Select | ENSP00000497642.1:p.Ser390= | |
ENST00000650478.1:c.110C>A | ENSP00000497560.1:p.Pro37His | |
ENST00000311322.8:c.1170C>A | ENSP00000309757.6:p.Ser390= | |
NM_000237.2:c.1170C>A | NP_000228.1:p.Ser390= | |
NM_000237.3:c.1170C>A MANE Select | NP_000228.1:p.Ser390= |