HGVS | Genome Assembly |
---|---|
NC_000015.10:g.32028764C>A , CM000677.2:g.32028764C>A | GRCh38 |
NC_000015.9:g.32320967C>A , CM000677.1:g.32320967C>A | GRCh37 |
NC_000015.8:g.30108259C>A | NCBI36 |
NG_009216.1:g.3242C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000635978.1:c.-42-72539C>A | ENSP00000490778.1:n.-42-72539C>A | |
ENST00000636603.1:c.-131-2134C>A | ENSP00000490513.1:n.-131-2134C>A | |
ENST00000637183.1:c.-43+50570C>A | ENSP00000490365.1:n.-43+50570C>A | |
ENST00000638106.1:c.-378-2134C>A | ENSP00000490413.1:n.-378-2134C>A | |
XM_011522320.1:c.573-157G>T | XP_011520622.1:n.573-157G>T | |
XM_011522320.2:c.573-157G>T | XP_011520622.1:n.573-157G>T |