HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28326373C>G , CM000675.2:g.28326373C>G | GRCh38 |
NC_000013.10:g.28900510C>G , CM000675.1:g.28900510C>G | GRCh37 |
NC_000013.9:g.27798510C>G | NCBI36 |
NG_012003.1:g.173756G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706527.1:n.621+1089G>C | ||
ENST00000282397.9:c.2796+1089G>C MANE Select | ENSP00000282397.4:n.2796+1089G>C | |
ENST00000282397.8:c.2796+1089G>C | ENSP00000282397.4:n.2796+1089G>C | |
ENST00000540678.2:c.-964+1089G>C | ENSP00000443311.2:n.-964+1089G>C | |
ENST00000615611.4:c.81+1089G>C | ENSP00000484385.1:n.81+1089G>C | |
NM_002019.4:c.2796+1089G>C MANE Select | NP_002010.2:n.2796+1089G>C | |
XR_941798.1:n.918-2248C>G | ||
XM_017020485.1:c.2682+1089G>C | XP_016875974.1:n.2682+1089G>C |