HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21618972A>G , CM000669.2:g.21618972A>G | GRCh38 |
NC_000007.13:g.21658590A>G , CM000669.1:g.21658590A>G | GRCh37 |
NC_000007.12:g.21625115A>G | NCBI36 |
NG_012886.2:g.80758A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4255-128A>G MANE Select | ENSP00000475939.1:n.4255-128A>G | |
ENST00000328843.10:c.4270-128A>G | ENSP00000330671.7:n.4270-128A>G | |
ENST00000409508.7:c.4255-128A>G | ENSP00000475939.1:n.4255-128A>G | |
ENST00000465593.1:n.281-128A>G | ||
ENST00000620169.4:c.4270-128A>G | ENSP00000481693.1:n.4270-128A>G | |
NM_001277115.1:c.4255-128A>G | NP_001264044.1:n.4255-128A>G | |
NM_001277115.2:c.4255-128A>G MANE Select | NP_001264044.1:n.4255-128A>G |