HGVS | Genome Assembly |
---|---|
NC_000007.14:g.120664949C>G , CM000669.2:g.120664949C>G | GRCh38 |
NC_000007.13:g.120305003C>G , CM000669.1:g.120305003C>G | GRCh37 |
NC_000007.12:g.120092239C>G | NCBI36 |
NG_034230.1:g.396282C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331113.9:c.1116-67954C>G MANE Select | ENSP00000333496.4:n.1116-67954C>G | |
ENST00000331113.8:c.1116-67954C>G | ENSP00000333496.4:n.1116-67954C>G | |
NM_012281.2:c.1116-67954C>G | NP_036413.1:n.1116-67954C>G | |
NM_012281.3:c.1116-67954C>G MANE Select | NP_036413.1:n.1116-67954C>G |