HGVS | Genome Assembly |
---|---|
NC_000010.11:g.15860304A>G , CM000672.2:g.15860304A>G | GRCh38 |
NC_000010.10:g.15902303A>G , CM000672.1:g.15902303A>G | GRCh37 |
NC_000010.9:g.15942309A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000277632.8:c.-5T>C MANE Select | ENSP00000277632.3:n.-5T>C | |
ENST00000277632.7:c.-5T>C | ENSP00000277632.3:n.-5T>C | |
ENST00000477891.1:n.195T>C | ||
NM_024948.2:c.-5T>C | NP_079224.1:n.-5T>C | |
XM_005252600.2:c.-444T>C | XP_005252657.1:n.-444T>C | |
XM_005252601.2:c.-472T>C | XP_005252658.1:n.-472T>C | |
XM_005252602.2:c.-392T>C | XP_005252659.1:n.-392T>C | |
XM_006717508.1:c.-5T>C | XP_006717571.1:n.-5T>C | |
XM_011519690.1:c.-5T>C | XP_011517992.1:n.-5T>C | |
XM_011519691.1:c.-5T>C | XP_011517993.1:n.-5T>C | |
XM_011519692.1:c.-5T>C | XP_011517994.1:n.-5T>C | |
XM_011519693.1:c.-458T>C | XP_011517995.1:n.-458T>C | |
XM_011519694.1:c.-588T>C | XP_011517996.1:n.-588T>C | |
XR_428647.1:n.204T>C | ||
XR_930516.1:n.204T>C | ||
NM_001318330.1:c.-472T>C | NP_001305259.1:n.-472T>C | |
NM_024948.3:c.-5T>C | NP_079224.1:n.-5T>C | |
XM_006717508.2:c.-5T>C | XP_006717571.1:n.-5T>C | |
XM_011519690.2:c.-5T>C | XP_011517992.1:n.-5T>C | |
XM_011519691.2:c.-5T>C | XP_011517993.1:n.-5T>C | |
XM_017016671.1:c.-5T>C | XP_016872160.1:n.-5T>C | |
XM_017016672.1:c.-602T>C | XP_016872161.1:n.-602T>C | |
XM_017016673.1:c.-550T>C | XP_016872162.1:n.-550T>C | |
XM_017016674.1:c.-472T>C | XP_016872163.1:n.-472T>C | |
XM_017016675.1:c.-444T>C | XP_016872164.1:n.-444T>C | |
XM_017016676.1:c.-392T>C | XP_016872165.1:n.-392T>C | |
XR_001747205.1:n.207T>C | ||
XR_001747206.1:n.207T>C | ||
XR_001747207.1:n.207T>C | ||
XR_428647.2:n.207T>C | ||
XR_930516.2:n.207T>C | ||
NM_024948.4:c.-5T>C MANE Select | NP_079224.1:n.-5T>C | |
NM_001318330.2:c.-472T>C | NP_001305259.1:n.-472T>C |