HGVS | Genome Assembly |
---|---|
NC_000007.14:g.44184122G>A , CM000669.2:g.44184122G>A | GRCh38 |
NC_000007.13:g.44223721G>A , CM000669.1:g.44223721G>A | GRCh37 |
NC_000007.12:g.44190246G>A | NCBI36 |
NG_008847.1:g.10302C>T | |
NG_008847.2:g.19049C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000616242.5:c.45+4787C>T | ENSP00000482149.2:n.45+4787C>T | |
ENST00000682635.1:n.531+4787C>T | ||
ENST00000403799.8:c.45+4787C>T MANE Select | ENSP00000384247.3:n.45+4787C>T | |
ENST00000671824.1:c.45+4787C>T | ENSP00000500264.1:n.45+4787C>T | |
ENST00000673284.1:c.45+4787C>T | ENSP00000499852.1:n.45+4787C>T | |
ENST00000403799.7:c.45+4787C>T | ENSP00000384247.3:n.45+4787C>T | |
ENST00000437084.1:c.45+4787C>T | ENSP00000402840.1:n.45+4787C>T | |
ENST00000476008.1:n.480+13569C>T | ||
NM_000162.3:c.45+4787C>T | NP_000153.1:n.45+4787C>T | |
XR_927221.1:n.379G>A | ||
XR_927222.1:n.1702G>A | ||
NM_000162.4:c.45+4787C>T | NP_000153.1:n.45+4787C>T | |
NM_001354800.1:c.45+4787C>T | NP_001341729.1:n.45+4787C>T | |
XR_927221.2:n.379G>A | ||
XR_927222.2:n.1702G>A | ||
NM_000162.5:c.45+4787C>T MANE Select | NP_000153.1:n.45+4787C>T |