HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247497G>A , CM000681.2:g.39247497G>A | GRCh38 |
NC_000019.9:g.39738137G>A , CM000681.1:g.39738137G>A | GRCh37 |
NC_000019.8:g.44429977G>A | NCBI36 |
NG_042193.1:g.2475C>T | |
NG_055295.1:g.6360C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.368-34C>T | ENSP00000476098.1:n.368-34C>T | |
ENST00000610963.1:c.367-34C>T | ENSP00000481371.1:n.367-34C>T | |
ENST00000616270.4:c.393C>T | ENSP00000480679.1:p.Phe131= | |
ENST00000634680.1:c.152-34C>T | ENSP00000489240.1:n.152-34C>T | |
ENST00000634967.1:c.224-34C>T | ENSP00000489559.1:n.224-34C>T | |
NR_074079.1:n.645-34C>T |