HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539477C>T , CM000665.2:g.186539477C>T | GRCh38 |
NC_000003.11:g.186257266C>T , CM000665.1:g.186257266C>T | GRCh37 |
NC_000003.10:g.187739960C>T | NCBI36 |
NG_009829.1:g.9902G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307944.6:c.142G>A MANE Select | ENSP00000312099.5:p.Ala48Thr | |
ENST00000307944.5:c.142G>A | ENSP00000312099.5:p.Ala48Thr | |
ENST00000392499.6:c.142G>A | ENSP00000376287.2:p.Ala48Thr | |
ENST00000460288.1:n.1044G>A | ||
NM_017541.2:c.142G>A | NP_060011.1:p.Ala48Thr | |
NM_017541.3:c.142G>A | NP_060011.1:p.Ala48Thr | |
NM_017541.4:c.142G>A MANE Select | NP_060011.1:p.Ala48Thr |