HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60372214C>A , CM000680.2:g.60372214C>A | GRCh38 |
NC_000018.9:g.58039447C>A , CM000680.1:g.58039447C>A | GRCh37 |
NC_000018.8:g.56190427C>A | NCBI36 |
NG_016441.1:g.5555G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.136G>T MANE Select | ENSP00000299766.3:p.Val46Phe | |
ENST00000299766.4:c.136G>T | ENSP00000299766.3:p.Val46Phe | |
NM_005912.2:c.136G>T | NP_005903.2:p.Val46Phe | |
NM_005912.3:c.136G>T MANE Select | NP_005903.2:p.Val46Phe |