HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39248253T>C , CM000681.2:g.39248253T>C | GRCh38 |
NC_000019.9:g.39738893T>C , CM000681.1:g.39738893T>C | GRCh37 |
NC_000019.8:g.44430733T>C | NCBI36 |
NG_042193.1:g.1719A>G | |
NG_055295.1:g.5604A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.151+176A>G | ENSP00000476098.1:n.151+176A>G | |
ENST00000610963.1:c.150+176A>G | ENSP00000481371.1:n.150+176A>G | |
ENST00000616270.4:c.151+176A>G | ENSP00000480679.1:n.151+176A>G | |
ENST00000634680.1:c.151+176A>G | ENSP00000489240.1:n.151+176A>G | |
ENST00000634967.1:c.151+176A>G | ENSP00000489559.1:n.151+176A>G | |
NR_074079.1:n.428+176A>G |