HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65238358C>A , CM000674.2:g.65238358C>A | GRCh38 |
NC_000012.11:g.65632138C>A , CM000674.1:g.65632138C>A | GRCh37 |
NC_000012.10:g.63918405C>A | NCBI36 |
NG_016210.1:g.73788C>A | |
NG_016210.2:g.73788C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1696-144C>A MANE Select | ENSP00000308369.2:n.1696-144C>A | |
ENST00000308330.2:c.1696-144C>A | ENSP00000308369.2:n.1696-144C>A | |
NM_001167614.1:c.1693-144C>A | NP_001161086.1:n.1693-144C>A | |
NM_014319.4:c.1696-144C>A | NP_055134.2:n.1696-144C>A | |
NM_014319.5:c.1696-144C>A MANE Select | NP_055134.2:n.1696-144C>A | |
NM_001167614.2:c.1693-144C>A | NP_001161086.1:n.1693-144C>A |