HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20985828G>A , CM000684.2:g.20985828G>A | GRCh38 |
NC_000022.10:g.21340117G>A , CM000684.1:g.21340117G>A | GRCh37 |
NC_000022.9:g.19670117G>A | NCBI36 |
NG_034193.1:g.8560G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700578.1:c.264-13G>A | ENSP00000515073.1:n.264-13G>A | |
ENST00000493460.2:n.339-13G>A | ||
ENST00000642151.1:c.175-13G>A | ||
ENST00000644435.1:c.170-13G>A | ||
ENST00000645935.1:c.264-1676G>A | ENSP00000493479.1:n.264-1676G>A | |
ENST00000646124.2:c.264-13G>A MANE Select | ENSP00000496779.1:n.264-13G>A | |
ENST00000215739.12:c.264-13G>A | ENSP00000215739.8:n.264-13G>A | |
ENST00000414985.5:c.264-13G>A | ENSP00000397247.1:n.264-13G>A | |
ENST00000443265.5:c.269-13G>A | ENSP00000406466.1:n.269-13G>A | |
ENST00000479606.5:n.410-13G>A | ||
ENST00000493460.1:n.339-13G>A | ||
NM_006767.3:c.264-13G>A | NP_006758.2:n.264-13G>A | |
NM_006767.4:c.264-13G>A MANE Select | NP_006758.2:n.264-13G>A |