HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10644614A>T , CM000682.2:g.10644614A>T | GRCh38 |
NC_000020.10:g.10625262A>T , CM000682.1:g.10625262A>T | GRCh37 |
NC_000020.9:g.10573262A>T | NCBI36 |
NG_007496.1:g.34433T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2345-230T>A MANE Select | ENSP00000254958.4:n.2345-230T>A | |
ENST00000617965.2:n.2934-230T>A | ||
ENST00000254958.9:c.2345-230T>A | ENSP00000254958.4:n.2345-230T>A | |
ENST00000423891.6:n.2211-230T>A | ||
ENST00000488480.2:n.990T>A | ||
NM_000214.2:c.2345-230T>A | NP_000205.1:n.2345-230T>A | |
NM_000214.3:c.2345-230T>A MANE Select | NP_000205.1:n.2345-230T>A |