HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183297047C>T , CM000663.2:g.183297047C>T | GRCh38 |
NC_000001.10:g.183266182C>T , CM000663.1:g.183266182C>T | GRCh37 |
NC_000001.9:g.181532805C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287713.7:c.86-3254G>A MANE Select | ENSP00000287713.6:n.86-3254G>A | |
ENST00000287713.6:c.86-3254G>A | ENSP00000287713.6:n.86-3254G>A | |
ENST00000294868.8:c.71-3254G>A | ENSP00000294868.4:n.71-3254G>A | |
NM_015039.3:c.86-3254G>A | NP_055854.1:n.86-3254G>A | |
NM_170706.3:c.71-3254G>A | NP_733820.1:n.71-3254G>A | |
XM_024454277.1:c.-119-3254G>A | XP_024310045.1:n.-119-3254G>A | |
NM_015039.4:c.86-3254G>A MANE Select | NP_055854.1:n.86-3254G>A | |
NM_170706.4:c.71-3254G>A | NP_733820.1:n.71-3254G>A |