HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328391T>C , CM000664.2:g.29328391T>C | GRCh38 |
NC_000002.11:g.29551257T>C , CM000664.1:g.29551257T>C | GRCh37 |
NC_000002.10:g.29404761T>C | NCBI36 |
NG_009445.1:g.598176A>G , LRG_488:g.598176A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1373A>G MANE Select | ENSP00000373700.3:p.His458Arg | |
ENST00000389048.7:c.1373A>G | ENSP00000373700.3:p.His458Arg | |
ENST00000618119.4:c.242A>G | ENSP00000482733.1:p.His81Arg | |
NM_004304.4:c.1373A>G | NP_004295.2:p.His458Arg | |
XR_939920.1:n.699T>C | ||
XR_939921.1:n.680+5863T>C | ||
XR_001738688.2:n.2303A>G | ||
XR_939920.2:n.589T>C | ||
XR_939921.2:n.576+5863T>C | ||
NM_004304.5:c.1373A>G MANE Select | NP_004295.2:p.His458Arg |