HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328391T>A , CM000664.2:g.29328391T>A | GRCh38 |
NC_000002.11:g.29551257T>A , CM000664.1:g.29551257T>A | GRCh37 |
NC_000002.10:g.29404761T>A | NCBI36 |
NG_009445.1:g.598176A>T , LRG_488:g.598176A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1373A>T MANE Select | ENSP00000373700.3:p.His458Leu | |
ENST00000389048.7:c.1373A>T | ENSP00000373700.3:p.His458Leu | |
ENST00000618119.4:c.242A>T | ENSP00000482733.1:p.His81Leu | |
NM_004304.4:c.1373A>T | NP_004295.2:p.His458Leu | |
XR_939920.1:n.699T>A | ||
XR_939921.1:n.680+5863T>A | ||
XR_001738688.2:n.2303A>T | ||
XR_939920.2:n.589T>A | ||
XR_939921.2:n.576+5863T>A | ||
NM_004304.5:c.1373A>T MANE Select | NP_004295.2:p.His458Leu |