HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727599G>A , CM000679.2:g.82727599G>A | GRCh38 |
NC_000017.10:g.80685475G>A , CM000679.1:g.80685475G>A | GRCh37 |
NC_000017.9:g.78278764G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*428G>A MANE Select | ENSP00000269373.6:n.*428G>A | |
ENST00000269373.10:c.*428G>A | ENSP00000269373.6:n.*428G>A | |
ENST00000571594.1:c.53+432G>A | ENSP00000459751.1:n.53+432G>A | |
NM_024619.3:c.*428G>A | NP_078895.2:n.*428G>A | |
NR_046408.1:n.1536G>A | ||
XM_024450948.1:c.*428G>A | XP_024306716.1:n.*428G>A | |
NM_024619.4:c.*428G>A MANE Select | NP_078895.2:n.*428G>A | |
NR_046408.2:n.1536G>A |