HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19955591C>A , CM000670.2:g.19955591C>A | GRCh38 |
NC_000008.10:g.19813102C>A , CM000670.1:g.19813102C>A | GRCh37 |
NC_000008.9:g.19857382C>A | NCBI36 |
NG_008855.1:g.21521C>A | |
NG_008855.2:g.58875C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.776-250C>A MANE Select | ENSP00000497642.1:n.776-250C>A | |
ENST00000311322.8:c.776-250C>A | ENSP00000309757.6:n.776-250C>A | |
NM_000237.2:c.776-250C>A | NP_000228.1:n.776-250C>A | |
NM_000237.3:c.776-250C>A MANE Select | NP_000228.1:n.776-250C>A |