HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247650C>T , CM000681.2:g.39247650C>T | GRCh38 |
NC_000019.9:g.39738290C>T , CM000681.1:g.39738290C>T | GRCh37 |
NC_000019.8:g.44430130C>T | NCBI36 |
NG_042193.1:g.2322G>A | |
NG_055295.1:g.6207G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.367+58G>A | ENSP00000476098.1:n.367+58G>A | |
ENST00000610963.1:c.366+58G>A | ENSP00000481371.1:n.366+58G>A | |
ENST00000616270.4:c.240G>A | ENSP00000480679.1:p.Gln80= | |
ENST00000634680.1:c.152-187G>A | ENSP00000489240.1:n.152-187G>A | |
ENST00000634967.1:c.224-187G>A | ENSP00000489559.1:n.224-187G>A | |
NR_074079.1:n.644+58G>A |