HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619101T= , CM000669.2:g.21619101T= | GRCh38 |
NC_000007.13:g.21658719T= , CM000669.1:g.21658719T= | GRCh37 |
NC_000007.12:g.21625244T= | NCBI36 |
NG_012886.2:g.80887T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4256T= MANE Select | ENSP00000475939.1:p.Val1419= | |
ENST00000328843.10:c.4271T= | ENSP00000330671.7:p.Val1424= | |
ENST00000409508.7:c.4256T= | ENSP00000475939.1:p.Val1419= | |
ENST00000465593.1:n.282T= | ||
ENST00000620169.4:c.4271T= | ENSP00000481693.1:p.Val1424= | |
NM_001277115.1:c.4256T= | NP_001264044.1:p.Val1419= | |
NM_001277115.2:c.4256T= MANE Select | NP_001264044.1:p.Val1419= |