HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247871T>A , CM000681.2:g.39247871T>A | GRCh38 |
NC_000019.9:g.39738511T>A , CM000681.1:g.39738511T>A | GRCh37 |
NC_000019.8:g.44430351T>A | NCBI36 |
NG_042193.1:g.2101A>T | |
NG_055295.1:g.5986A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000606380.2:c.224-20A>T | ENSP00000476098.1:n.224-20A>T | |
ENST00000610963.1:c.223-20A>T | ENSP00000481371.1:n.223-20A>T | |
ENST00000616270.4:c.223+53A>T | ENSP00000480679.1:n.223+53A>T | |
ENST00000634680.1:c.152-408A>T | ENSP00000489240.1:n.152-408A>T | |
ENST00000634967.1:c.223+53A>T | ENSP00000489559.1:n.223+53A>T | |
NR_074079.1:n.501-20A>T |