HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863539G>C , CM000672.2:g.87863539G>C | GRCh38 |
NC_000010.10:g.89623296G>C , CM000672.1:g.89623296G>C | GRCh37 |
NC_000010.9:g.89613276G>C | NCBI36 |
NG_007466.2:g.5102G>C , LRG_311:g.5102G>C | |
NG_033079.1:g.4899C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706954.1:c.-17+897G>C | ENSP00000516674.1:n.-17+897G>C | |
ENST00000688308.1:c.-17+426G>C | ENSP00000508752.1:n.-17+426G>C | |
ENST00000693560.1:c.-411G>C | ENSP00000509861.1:n.-411G>C | |
ENST00000371953.7:c.-931G>C | ENSP00000361021.3:n.-931G>C | |
ENST00000610634.1:c.-1033G>C | ENSP00000477517.1:n.-1033G>C | |
NM_000314.5:c.-930G>C | NP_000305.3:n.-930G>C | |
NM_000314.6:c.-930G>C | NP_000305.3:n.-930G>C | |
NM_001304717.2:c.-411G>C | NP_001291646.2:n.-411G>C | |
NM_001304718.1:c.-1635G>C | NP_001291647.1:n.-1635G>C |