HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117317234A>C , CM000673.2:g.117317234A>C | GRCh38 |
NC_000011.9:g.117187950A>C , CM000673.1:g.117187950A>C | GRCh37 |
NC_000011.8:g.116693160A>C | NCBI36 |
NG_029372.1:g.4023T>G | |
NG_033032.1:g.457A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000525734.5:c.-98+2506A>C | ENSP00000436609.1:n.-98+2506A>C | |
XM_017017364.1:c.-98+701A>C | XP_016872853.1:n.-98+701A>C |