HGVS | Genome Assembly |
---|---|
NC_000008.11:g.11491688G>A , CM000670.2:g.11491688G>A | GRCh38 |
NC_000008.10:g.11349197G>A , CM000670.1:g.11349197G>A | GRCh37 |
NC_000008.9:g.11386606G>A | NCBI36 |
NG_023543.1:g.2677G>A | |
NG_023543.2:g.2677G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696154.2:n.274+4521G>A | ||
ENST00000696154.1:c.-91+4521G>A | ENSP00000512445.1:n.-91+4521G>A | |
ENST00000645242.1:c.-91+4521G>A | ENSP00000494690.1:n.-91+4521G>A |