HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247870G>T , CM000681.2:g.39247870G>T | GRCh38 |
NC_000019.9:g.39738510G>T , CM000681.1:g.39738510G>T | GRCh37 |
NC_000019.8:g.44430350G>T | NCBI36 |
NG_042193.1:g.2102C>A | |
NG_055295.1:g.5987C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000606380.2:c.224-19C>A | ENSP00000476098.1:n.224-19C>A | |
ENST00000610963.1:c.223-19C>A | ENSP00000481371.1:n.223-19C>A | |
ENST00000616270.4:c.223+54C>A | ENSP00000480679.1:n.223+54C>A | |
ENST00000634680.1:c.152-407C>A | ENSP00000489240.1:n.152-407C>A | |
ENST00000634967.1:c.223+54C>A | ENSP00000489559.1:n.223+54C>A | |
NR_074079.1:n.501-19C>A |