HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675867G>A , CM000685.2:g.38675867G>A | GRCh38 |
NC_000023.10:g.38535121G>A , CM000685.1:g.38535121G>A | GRCh37 |
NC_000023.9:g.38420065G>A | NCBI36 |
NG_009160.1:g.119391G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.597+7G>A MANE Select | ENSP00000367743.2:n.597+7G>A | |
ENST00000286824.6:c.648+7G>A | ENSP00000286824.6:n.648+7G>A | |
ENST00000378482.6:c.597+7G>A | ENSP00000367743.2:n.597+7G>A | |
ENST00000419600.3:n.541+7G>A | ||
ENST00000465127.1:c.687+7G>A | ENSP00000417050.1:n.687+7G>A | |
ENST00000471410.5:c.*623+7G>A | ENSP00000419290.1:n.*623+7G>A | |
ENST00000475216.5:c.*590+7G>A | ENSP00000418586.1:n.*590+7G>A | |
NM_004615.3:c.597+7G>A | NP_004606.2:n.597+7G>A | |
NM_004615.4:c.597+7G>A MANE Select | NP_004606.2:n.597+7G>A |