HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539501T>C , CM000665.2:g.186539501T>C | GRCh38 |
NC_000003.11:g.186257290T>C , CM000665.1:g.186257290T>C | GRCh37 |
NC_000003.10:g.187739984T>C | NCBI36 |
NG_009829.1:g.9878A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307944.6:c.118A>G MANE Select | ENSP00000312099.5:p.Ile40Val | |
ENST00000307944.5:c.118A>G | ENSP00000312099.5:p.Ile40Val | |
ENST00000392499.6:c.118A>G | ENSP00000376287.2:p.Ile40Val | |
ENST00000460288.1:n.1020A>G | ||
NM_017541.2:c.118A>G | NP_060011.1:p.Ile40Val | |
NM_017541.3:c.118A>G | NP_060011.1:p.Ile40Val | |
NM_017541.4:c.118A>G MANE Select | NP_060011.1:p.Ile40Val |