HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129468300G>C , CM000672.2:g.129468300G>C | GRCh38 |
NC_000010.10:g.131266564G>C , CM000672.1:g.131266564G>C | GRCh37 |
NC_000010.9:g.131156554G>C | NCBI36 |
NG_052673.1:g.6117G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306010.8:c.81+1004G>C | ENSP00000302111.7:n.81+1004G>C | |
ENST00000651593.1:c.-13+1004G>C MANE Select | ENSP00000498729.1:n.-13+1004G>C | |
ENST00000306010.7:c.81+1004G>C | ENSP00000302111.7:n.81+1004G>C | |
ENST00000482547.1:n.35+1004G>C | ||
ENST00000482653.1:n.68+1004G>C | ||
NM_002412.3:c.81+1004G>C | NP_002403.2:n.81+1004G>C | |
NM_002412.4:c.81+1004G>C | NP_002403.2:n.81+1004G>C | |
XM_005252682.2:c.-13+859G>C | XP_005252739.1:n.-13+859G>C | |
NM_002412.5:c.-13+1004G>C MANE Select | NP_002403.3:n.-13+1004G>C |