HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082719C>T , CM000682.2:g.3082719C>T | GRCh38 |
NC_000020.10:g.3063365C>T , CM000682.1:g.3063365C>T | GRCh37 |
NC_000020.9:g.3011365C>T | NCBI36 |
NG_008663.1:g.7006G>A , LRG_715:g.7006G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.406G>A MANE Select | ENSP00000369647.3:p.Asp136Asn | |
NM_000490.4:c.406G>A , LRG_715t1:c.406G>A | NP_000481.2:p.Asp136Asn | |
XM_011529267.1:c.406G>A | XP_011527569.1:p.Asp136Asn | |
XM_011529267.2:c.406G>A | XP_011527569.1:p.Asp136Asn | |
NM_000490.5:c.406G>A MANE Select | NP_000481.2:p.Asp136Asn |