HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675866C>T , CM000685.2:g.38675866C>T | GRCh38 |
NC_000023.10:g.38535120C>T , CM000685.1:g.38535120C>T | GRCh37 |
NC_000023.9:g.38420064C>T | NCBI36 |
NG_009160.1:g.119390C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.597+6C>T MANE Select | ENSP00000367743.2:n.597+6C>T | |
ENST00000286824.6:c.648+6C>T | ENSP00000286824.6:n.648+6C>T | |
ENST00000378482.6:c.597+6C>T | ENSP00000367743.2:n.597+6C>T | |
ENST00000419600.3:n.541+6C>T | ||
ENST00000465127.1:c.687+6C>T | ENSP00000417050.1:n.687+6C>T | |
ENST00000471410.5:c.*623+6C>T | ENSP00000419290.1:n.*623+6C>T | |
ENST00000475216.5:c.*590+6C>T | ENSP00000418586.1:n.*590+6C>T | |
NM_004615.3:c.597+6C>T | NP_004606.2:n.597+6C>T | |
NM_004615.4:c.597+6C>T MANE Select | NP_004606.2:n.597+6C>T |