HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647012G>A , CM000669.2:g.100647012G>A | GRCh38 |
NC_000007.13:g.100244635G>A , CM000669.1:g.100244635G>A | GRCh37 |
NC_000007.12:g.100082571G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.895C>T MANE Select | ENSP00000160382.5:p.Leu299Phe | |
ENST00000160382.9:c.895C>T | ENSP00000160382.5:p.Leu299Phe | |
ENST00000487125.1:n.457C>T | ||
NM_016188.4:c.895C>T | NP_057272.1:p.Leu299Phe | |
XR_927476.1:n.1002C>T | ||
NR_134539.1:n.1002C>T | ||
NM_016188.5:c.895C>T MANE Select | NP_057272.1:p.Leu299Phe | |
NR_134539.2:n.989C>T |