HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130290G>A , CM000663.2:g.160130290G>A | GRCh38 |
NC_000001.10:g.160100080G>A , CM000663.1:g.160100080G>A | GRCh37 |
NC_000001.9:g.158366704G>A | NCBI36 |
NG_008014.1:g.19533G>A , LRG_6:g.19533G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.1650G>A MANE Select | ENSP00000354490.3:p.Leu550= | |
ENST00000361216.7:c.1650G>A | ENSP00000354490.3:p.Leu550= | |
ENST00000392233.7:c.1650G>A | ENSP00000376066.3:p.Leu550= | |
ENST00000447527.1:c.782G>A | ||
ENST00000472488.5:n.1753G>A | ||
NM_000702.3:c.1650G>A | NP_000693.1:p.Leu550= | |
NM_000702.4:c.1650G>A MANE Select | NP_000693.1:p.Leu550= |