HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40931908C>A , CM000677.2:g.40931908C>A | GRCh38 |
NC_000015.9:g.41224106C>A , CM000677.1:g.41224106C>A | GRCh37 |
NC_000015.8:g.39011398C>A | NCBI36 |
NG_046974.1:g.7576C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.658+142C>A MANE Select | ENSP00000249749.5:n.658+142C>A | |
ENST00000249749.6:c.658+142C>A | ENSP00000249749.5:n.658+142C>A | |
ENST00000559440.1:n.887+142C>A | ||
NM_019074.3:c.658+142C>A | NP_061947.1:n.658+142C>A | |
NM_019074.4:c.658+142C>A MANE Select | NP_061947.1:n.658+142C>A |