HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21880806G>A , CM000669.2:g.21880806G>A | GRCh38 |
NC_000007.13:g.21920424G>A , CM000669.1:g.21920424G>A | GRCh37 |
NC_000007.12:g.21886949G>A | NCBI36 |
NG_012886.2:g.342592G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.12300G>A MANE Select | ENSP00000475939.1:p.Gln4100= | |
ENST00000328843.10:c.12321G>A | ENSP00000330671.7:p.Gln4107= | |
ENST00000409508.7:c.12300G>A | ENSP00000475939.1:p.Gln4100= | |
ENST00000620169.4:c.12321G>A | ENSP00000481693.1:p.Gln4107= | |
NM_001277115.1:c.12300G>A | NP_001264044.1:p.Gln4100= | |
NM_001277115.2:c.12300G>A MANE Select | NP_001264044.1:p.Gln4100= |