HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432050G>T , CM000663.2:g.229432050G>T | GRCh38 |
NC_000001.10:g.229567797G>T , CM000663.1:g.229567797G>T | GRCh37 |
NC_000001.9:g.227634420G>T | NCBI36 |
NG_006672.1:g.7047C>A , LRG_429:g.7047C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.752C>A | ENSP00000355644.4:p.Thr251Asn | |
ENST00000684723.1:c.617C>A | ENSP00000508084.1:p.Thr206Asn | |
ENST00000366683.3:c.480-188C>A | ENSP00000355644.3:n.480-188C>A | |
ENST00000366684.7:c.752C>A MANE Select | ENSP00000355645.3:p.Thr251Asn | |
NM_001100.3:c.752C>A , LRG_429t1:c.752C>A | NP_001091.1:p.Thr251Asn | |
NM_001100.4:c.752C>A MANE Select | NP_001091.1:p.Thr251Asn |