HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2444484G>A , CM000673.2:g.2444484G>A | GRCh38 |
NC_000011.9:g.2465714G>A , CM000673.1:g.2465714G>A | GRCh37 |
NC_000011.8:g.2422290G>A | NCBI36 |
NG_008935.1:g.4494G>A , LRG_287:g.4494G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696290.1:c.-1739C>T MANE Select | ENSP00000512529.1:n.-1739C>T | |
XR_930984.1:n.87C>T | ||
NM_014555.4:c.-1739C>T MANE Select | NP_055370.1:n.-1739C>T |