HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995763A>G , CM000663.2:g.196995763A>G | GRCh38 |
NC_000001.10:g.196964893A>G , CM000663.1:g.196964893A>G | GRCh37 |
NC_000001.9:g.195231516A>G | NCBI36 |
NG_016365.1:g.23227A>G , LRG_227:g.23227A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.399A>G | ENSP00000514393.1:p.Glu133= | |
ENST00000699467.1:n.723A>G | ||
ENST00000699468.1:c.-24-351A>G | ENSP00000514394.1:n.-24-351A>G | |
ENST00000256785.5:c.654A>G MANE Select | ENSP00000256785.4:p.Glu218= | |
ENST00000256785.4:c.654A>G | ENSP00000256785.4:p.Glu218= | |
NM_030787.3:c.654A>G , LRG_227t1:c.654A>G | NP_110414.1:p.Glu218= | |
XM_011510020.1:c.663A>G | XP_011508322.1:p.Glu221= | |
XM_011510020.2:c.663A>G | XP_011508322.1:p.Glu221= | |
NM_030787.4:c.654A>G MANE Select | NP_110414.1:p.Glu218= |