HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75006054T>G , CM000676.2:g.75006054T>G | GRCh38 |
NC_000014.8:g.75472757T>G , CM000676.1:g.75472757T>G | GRCh37 |
NC_000014.7:g.74542510T>G | NCBI36 |
NG_013333.1:g.8146T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.693+93T>G MANE Select | ENSP00000266126.5:n.693+93T>G | |
ENST00000266126.9:c.693+93T>G | ENSP00000266126.5:n.693+93T>G | |
ENST00000553401.5:c.691+93T>G | ENSP00000451681.1:n.691+93T>G | |
ENST00000554748.2:c.57+93T>G | ENSP00000452582.2:n.57+93T>G | |
ENST00000556028.5:c.*41+93T>G | ENSP00000452311.1:n.*41+93T>G | |
NM_014239.3:c.693+93T>G | NP_055054.1:n.693+93T>G | |
NM_014239.4:c.693+93T>G MANE Select | NP_055054.1:n.693+93T>G |