HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39248262G>T , CM000681.2:g.39248262G>T | GRCh38 |
NC_000019.9:g.39738902G>T , CM000681.1:g.39738902G>T | GRCh37 |
NC_000019.8:g.44430742G>T | NCBI36 |
NG_042193.1:g.1710C>A | |
NG_055295.1:g.5595C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.151+167C>A | ENSP00000476098.1:n.151+167C>A | |
ENST00000610963.1:c.150+167C>A | ENSP00000481371.1:n.150+167C>A | |
ENST00000616270.4:c.151+167C>A | ENSP00000480679.1:n.151+167C>A | |
ENST00000634680.1:c.151+167C>A | ENSP00000489240.1:n.151+167C>A | |
ENST00000634967.1:c.151+167C>A | ENSP00000489559.1:n.151+167C>A | |
NR_074079.1:n.428+167C>A |