HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160125241A>G , CM000663.2:g.160125241A>G | GRCh38 |
NC_000001.10:g.160095031A>G , CM000663.1:g.160095031A>G | GRCh37 |
NC_000001.9:g.158361655A>G | NCBI36 |
NG_008014.1:g.14484A>G , LRG_6:g.14484A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.736A>G MANE Select | ENSP00000354490.3:p.Asn246Asp | |
ENST00000361216.7:c.736A>G | ENSP00000354490.3:p.Asn246Asp | |
ENST00000392233.7:c.736A>G | ENSP00000376066.3:p.Asn246Asp | |
ENST00000468587.1:n.340A>G | ||
ENST00000472488.5:n.839A>G | ||
NM_000702.3:c.736A>G | NP_000693.1:p.Asn246Asp | |
NM_000702.4:c.736A>G MANE Select | NP_000693.1:p.Asn246Asp |