HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328386C>G , CM000664.2:g.29328386C>G | GRCh38 |
NC_000002.11:g.29551252C>G , CM000664.1:g.29551252C>G | GRCh37 |
NC_000002.10:g.29404756C>G | NCBI36 |
NG_009445.1:g.598181G>C , LRG_488:g.598181G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1378G>C MANE Select | ENSP00000373700.3:p.Asp460His | |
ENST00000389048.7:c.1378G>C | ENSP00000373700.3:p.Asp460His | |
ENST00000618119.4:c.247G>C | ENSP00000482733.1:p.Asp83His | |
NM_004304.4:c.1378G>C | NP_004295.2:p.Asp460His | |
XR_939920.1:n.694C>G | ||
XR_939921.1:n.680+5858C>G | ||
XR_001738688.2:n.2308G>C | ||
XR_939920.2:n.584C>G | ||
XR_939921.2:n.576+5858C>G | ||
NM_004304.5:c.1378G>C MANE Select | NP_004295.2:p.Asp460His |