HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432359G>T , CM000663.2:g.229432359G>T | GRCh38 |
NC_000001.10:g.229568106G>T , CM000663.1:g.229568106G>T | GRCh37 |
NC_000001.9:g.227634729G>T | NCBI36 |
NG_006672.1:g.6738C>A , LRG_429:g.6738C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.527C>A | ENSP00000355644.4:p.Ala176Asp | |
ENST00000684723.1:c.392C>A | ENSP00000508084.1:p.Ala131Asp | |
ENST00000366683.3:c.479+48C>A | ENSP00000355644.3:n.479+48C>A | |
ENST00000366684.7:c.527C>A MANE Select | ENSP00000355645.3:p.Ala176Asp | |
NM_001100.3:c.527C>A , LRG_429t1:c.527C>A | NP_001091.1:p.Ala176Asp | |
NM_001100.4:c.527C>A MANE Select | NP_001091.1:p.Ala176Asp |