HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432359G= , CM000663.2:g.229432359G= | GRCh38 |
NC_000001.10:g.229568106G= , CM000663.1:g.229568106G= | GRCh37 |
NC_000001.9:g.227634729G= | NCBI36 |
NG_006672.1:g.6738C= , LRG_429:g.6738C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.527C= | ENSP00000355644.4:p.Ala176= | |
ENST00000684723.1:c.392C= | ENSP00000508084.1:p.Ala131= | |
ENST00000366683.3:c.479+48C= | ENSP00000355644.3:n.479+48C= | |
ENST00000366684.7:c.527C= MANE Select | ENSP00000355645.3:p.Ala176= | |
NM_001100.3:c.527C= , LRG_429t1:c.527C= | NP_001091.1:p.Ala176= | |
NM_001100.4:c.527C= MANE Select | NP_001091.1:p.Ala176= |