HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071708G>A , CM000667.2:g.111071708G>A | GRCh38 |
NC_000005.9:g.110407406G>A , CM000667.1:g.110407406G>A | GRCh37 |
NC_000005.8:g.110435305G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344895.3:c.-183G>A | ENSP00000339804.3:n.-183G>A | |
ENST00000420978.6:c.34+191G>A | ENSP00000399099.2:n.34+191G>A | |
NM_033035.4:c.-183G>A | NP_149024.1:n.-183G>A | |
NR_045089.1:n.1438+191G>A | ||
NR_045089.2:n.1456+191G>A |