HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17642247G>A , CM000673.2:g.17642247G>A | GRCh38 |
NC_000011.9:g.17663794G>A , CM000673.1:g.17663794G>A | GRCh37 |
NC_000011.8:g.17620370G>A | NCBI36 |
NG_033191.1:g.99875G>A | |
NG_033191.2:g.99875G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.8451+1G>A | ENSP00000382323.2:n.8451+1G>A | |
ENST00000399397.6:c.8415+1G>A MANE Select | ENSP00000382329.2:n.8415+1G>A | |
ENST00000399391.6:c.8451+1G>A | ENSP00000382323.2:n.8451+1G>A | |
ENST00000399397.5:c.8415+1G>A | ENSP00000382329.2:n.8415+1G>A | |
NM_001277269.1:c.8451+1G>A | NP_001264198.1:n.8451+1G>A | |
NM_001292063.1:c.8415+1G>A | NP_001278992.1:n.8415+1G>A | |
NM_001277269.2:c.8451+1G>A | NP_001264198.1:n.8451+1G>A | |
NM_001292063.2:c.8415+1G>A MANE Select | NP_001278992.1:n.8415+1G>A |