HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44376100G>T , CM000672.2:g.44376100G>T | GRCh38 |
NC_000010.10:g.44871548G>T , CM000672.1:g.44871548G>T | GRCh37 |
NC_000010.9:g.44191554G>T | NCBI36 |
NG_016861.1:g.13998C>A | |
NG_016861.2:g.13998C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374426.6:c.267-68C>A | ENSP00000363548.2:n.267-68C>A | |
ENST00000374429.6:c.266+2537C>A | ENSP00000363551.2:n.266+2537C>A | |
ENST00000395793.7:c.110-3010C>A | ENSP00000379139.3:n.110-3010C>A | |
ENST00000395795.5:c.111-3011C>A | ENSP00000379141.5:n.111-3011C>A | |
NM_000609.6:c.266+2537C>A | NP_000600.1:n.266+2537C>A | |
NM_001033886.2:c.267-68C>A | NP_001029058.1:n.267-68C>A | |
NM_001277990.1:c.110-3010C>A | NP_001264919.1:n.110-3010C>A | |
XR_001747171.1:n.331+2537C>A | ||
XR_001747172.1:n.331+2537C>A | ||
XR_001747173.1:n.331+2537C>A | ||
XR_001747174.1:n.331+2537C>A | ||
NM_000609.7:c.266+2537C>A | NP_000600.1:n.266+2537C>A | |
NM_001277990.2:c.110-3010C>A | NP_001264919.1:n.110-3010C>A |