HGVS | Genome Assembly |
---|---|
NC_000014.9:g.31394048T>C , CM000676.2:g.31394048T>C | GRCh38 |
NC_000014.8:g.31863254T>C , CM000676.1:g.31863254T>C | GRCh37 |
NC_000014.7:g.30933005T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000543095.7:c.772+4A>G MANE Select | ENSP00000437968.2:n.772+4A>G | |
ENST00000543095.6:c.772+4A>G | ENSP00000437968.2:n.772+4A>G | |
ENST00000549185.5:c.*868+4A>G | ENSP00000446654.1:n.*868+4A>G | |
NM_015473.3:c.772+4A>G | NP_056288.2:n.772+4A>G | |
NM_015473.4:c.772+4A>G MANE Select | NP_056288.2:n.772+4A>G |