HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518127C>A , CM000676.2:g.77518127C>A | GRCh38 |
NC_000014.8:g.77984470C>A , CM000676.1:g.77984470C>A | GRCh37 |
NC_000014.7:g.77054223C>A | NCBI36 |
NG_028282.1:g.103641G>T , LRG_371:g.103641G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.512G>T | ||
ENST00000687688.1:n.1243G>T | ||
ENST00000692906.1:n.1212G>T | ||
ENST00000216484.7:c.1480G>T MANE Select | ENSP00000216484.2:p.Val494Phe | |
ENST00000216484.6:c.1480G>T | ENSP00000216484.2:p.Val494Phe | |
ENST00000556607.1:c.308G>T | ENSP00000451029.1:n.308G>T | |
NM_004863.3:c.1480G>T , LRG_371t1:c.1480G>T | NP_004854.1:p.Val494Phe | |
NM_004863.4:c.1480G>T MANE Select | NP_004854.1:p.Val494Phe |