HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128949434G>A , CM000669.2:g.128949434G>A | GRCh38 |
NC_000007.13:g.128589488G>A , CM000669.1:g.128589488G>A | GRCh37 |
NC_000007.12:g.128376724G>A | NCBI36 |
NG_012306.1:g.16495G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700148.1:n.2397G>A | ||
ENST00000700151.1:n.4663G>A | ||
ENST00000700152.1:n.4203G>A | ||
ENST00000700153.1:n.3577G>A | ||
ENST00000700154.1:n.1741G>A | ||
ENST00000357234.10:c.*616G>A MANE Select | ENSP00000349770.5:n.*616G>A | |
ENST00000489702.6:c.*616G>A | ENSP00000418037.2:n.*616G>A | |
ENST00000249375.8:c.*616G>A | ENSP00000249375.4:n.*616G>A | |
ENST00000402030.6:c.*616G>A | ENSP00000385352.2:n.*616G>A | |
NM_001098627.3:c.*616G>A | NP_001092097.2:n.*616G>A | |
NM_001098629.2:c.*616G>A | NP_001092099.1:n.*616G>A | |
NM_001098630.2:c.*616G>A | NP_001092100.1:n.*616G>A | |
NM_001242452.2:c.*616G>A | NP_001229381.1:n.*616G>A | |
NM_032643.4:c.*616G>A | NP_116032.1:n.*616G>A | |
XM_005250317.2:c.*616G>A | XP_005250374.1:n.*616G>A | |
XM_006715974.2:c.*616G>A | XP_006716037.1:n.*616G>A | |
XM_011516158.1:c.*616G>A | XP_011514460.1:n.*616G>A | |
XM_011516159.1:c.*616G>A | XP_011514461.1:n.*616G>A | |
XM_011516160.1:c.*616G>A | XP_011514462.1:n.*616G>A | |
XM_011516161.1:c.*616G>A | XP_011514463.1:n.*616G>A | |
XM_011516162.1:c.*616G>A | XP_011514464.1:n.*616G>A | |
XM_011516163.1:c.*616G>A | XP_011514465.1:n.*616G>A | |
XM_011516164.1:c.*616G>A | XP_011514466.1:n.*616G>A | |
NM_001347928.1:c.*616G>A | NP_001334857.1:n.*616G>A | |
NM_001364314.1:c.*616G>A | NP_001351243.1:n.*616G>A | |
XM_011516158.3:c.*616G>A | XP_011514460.1:n.*616G>A | |
XM_011516159.3:c.*616G>A | XP_011514461.1:n.*616G>A | |
NM_001098629.3:c.*616G>A MANE Select | NP_001092099.1:n.*616G>A | |
NM_001098630.3:c.*616G>A | NP_001092100.1:n.*616G>A | |
NM_001242452.3:c.*616G>A | NP_001229381.1:n.*616G>A | |
NM_001347928.2:c.*616G>A | NP_001334857.1:n.*616G>A | |
NM_001364314.2:c.*616G>A | NP_001351243.1:n.*616G>A | |
NM_001098627.4:c.*616G>A | NP_001092097.2:n.*616G>A | |
NM_032643.5:c.*616G>A | NP_116032.1:n.*616G>A |