HGVS | Genome Assembly |
---|---|
NC_000017.11:g.33066657C>A , CM000679.2:g.33066657C>A | GRCh38 |
NC_000017.10:g.31393675C>A , CM000679.1:g.31393675C>A | GRCh37 |
NC_000017.9:g.28417788C>A | NCBI36 |
NG_029763.1:g.1095151G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225823.7:c.987+22206G>T MANE Select | ENSP00000225823.2:n.987+22206G>T | |
ENST00000225823.6:c.987+22206G>T | ENSP00000225823.2:n.987+22206G>T | |
ENST00000359872.6:c.834+22206G>T | ENSP00000352934.6:n.834+22206G>T | |
ENST00000448983.1:n.392+22206G>T | ||
NM_001094.4:c.834+22206G>T | NP_001085.2:n.834+22206G>T | |
NM_183377.1:c.987+22206G>T | NP_899233.1:n.987+22206G>T | |
NM_001094.5:c.834+22206G>T | NP_001085.2:n.834+22206G>T | |
NM_183377.2:c.987+22206G>T MANE Select | NP_899233.1:n.987+22206G>T |