HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328400C>A , CM000664.2:g.29328400C>A | GRCh38 |
NC_000002.11:g.29551266C>A , CM000664.1:g.29551266C>A | GRCh37 |
NC_000002.10:g.29404770C>A | NCBI36 |
NG_009445.1:g.598167G>T , LRG_488:g.598167G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1364G>T MANE Select | ENSP00000373700.3:p.Cys455Phe | |
ENST00000389048.7:c.1364G>T | ENSP00000373700.3:p.Cys455Phe | |
ENST00000618119.4:c.233G>T | ENSP00000482733.1:p.Cys78Phe | |
NM_004304.4:c.1364G>T | NP_004295.2:p.Cys455Phe | |
XR_939920.1:n.708C>A | ||
XR_939921.1:n.680+5872C>A | ||
XR_001738688.2:n.2294G>T | ||
XR_939920.2:n.598C>A | ||
XR_939921.2:n.576+5872C>A | ||
NM_004304.5:c.1364G>T MANE Select | NP_004295.2:p.Cys455Phe |