HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539579T>C , CM000665.2:g.186539579T>C | GRCh38 |
NC_000003.11:g.186257368T>C , CM000665.1:g.186257368T>C | GRCh37 |
NC_000003.10:g.187740062T>C | NCBI36 |
NG_009829.1:g.9800A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307944.6:c.40A>G MANE Select | ENSP00000312099.5:p.Lys14Glu | |
ENST00000307944.5:c.40A>G | ENSP00000312099.5:p.Lys14Glu | |
ENST00000392499.6:c.40A>G | ENSP00000376287.2:p.Lys14Glu | |
ENST00000460288.1:n.942A>G | ||
NM_017541.2:c.40A>G | NP_060011.1:p.Lys14Glu | |
NM_017541.3:c.40A>G | NP_060011.1:p.Lys14Glu | |
NM_017541.4:c.40A>G MANE Select | NP_060011.1:p.Lys14Glu |