HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247908C>A , CM000681.2:g.39247908C>A | GRCh38 |
NC_000019.9:g.39738548C>A , CM000681.1:g.39738548C>A | GRCh37 |
NC_000019.8:g.44430388C>A | NCBI36 |
NG_042193.1:g.2064G>T | |
NG_055295.1:g.5949G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000606380.2:c.223+16G>T | ENSP00000476098.1:n.223+16G>T | |
ENST00000610963.1:c.222+16G>T | ENSP00000481371.1:n.222+16G>T | |
ENST00000616270.4:c.223+16G>T | ENSP00000480679.1:n.223+16G>T | |
ENST00000634680.1:c.152-445G>T | ENSP00000489240.1:n.152-445G>T | |
ENST00000634967.1:c.223+16G>T | ENSP00000489559.1:n.223+16G>T | |
NR_074079.1:n.500+16G>T |