HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354078T>A , CM000666.2:g.40354078T>A | GRCh38 |
NC_000004.11:g.40356095T>A , CM000666.1:g.40356095T>A | GRCh37 |
NC_000004.10:g.40050852T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310169.3:c.998T>A MANE Select | ENSP00000312663.2:p.Val333Glu | |
ENST00000310169.2:c.998T>A | ENSP00000312663.2:p.Val333Glu | |
ENST00000509518.1:n.449T>A | ||
NM_017581.3:c.998T>A | NP_060051.2:p.Val333Glu | |
NM_017581.4:c.998T>A MANE Select | NP_060051.2:p.Val333Glu |