HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134375619C>A , CM000671.2:g.134375619C>A | GRCh38 |
NC_000009.11:g.137267465C>A , CM000671.1:g.137267465C>A | GRCh37 |
NC_000009.10:g.136407286C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.29-26013C>A MANE Select | ENSP00000419692.1:n.29-26013C>A | |
ENST00000356384.4:n.293+1489C>A | ||
ENST00000481739.1:c.29-26013C>A | ENSP00000419692.1:n.29-26013C>A | |
ENST00000484822.1:n.453-26013C>A | ||
NM_002957.5:c.29-26013C>A | NP_002948.1:n.29-26013C>A | |
NM_002957.6:c.29-26013C>A MANE Select | NP_002948.1:n.29-26013C>A |