HGVS | Genome Assembly |
---|---|
NC_000007.14:g.120665004C>A , CM000669.2:g.120665004C>A | GRCh38 |
NC_000007.13:g.120305058C>A , CM000669.1:g.120305058C>A | GRCh37 |
NC_000007.12:g.120092294C>A | NCBI36 |
NG_034230.1:g.396337C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331113.9:c.1116-67899C>A MANE Select | ENSP00000333496.4:n.1116-67899C>A | |
ENST00000331113.8:c.1116-67899C>A | ENSP00000333496.4:n.1116-67899C>A | |
NM_012281.2:c.1116-67899C>A | NP_036413.1:n.1116-67899C>A | |
NM_012281.3:c.1116-67899C>A MANE Select | NP_036413.1:n.1116-67899C>A |