HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28659160G>C , CM000675.2:g.28659160G>C | GRCh38 |
NC_000013.10:g.29233297G>C , CM000675.1:g.29233297G>C | GRCh37 |
NC_000013.9:g.28131297G>C | NCBI36 |
NG_027550.1:g.5157G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697716.1:c.-110G>C | ENSP00000513414.1:n.-110G>C | |
ENST00000697717.1:c.-25G>C | ENSP00000513415.1:n.-25G>C | |
ENST00000697718.1:c.-25G>C | ENSP00000513416.1:n.-25G>C | |
ENST00000380842.5:c.-25G>C MANE Select | ENSP00000370222.4:n.-25G>C | |
ENST00000380842.4:c.-25G>C | ENSP00000370222.4:n.-25G>C | |
ENST00000460403.1:n.57G>C | ||
NM_015932.5:c.-25G>C | NP_057016.1:n.-25G>C | |
NM_015932.6:c.-25G>C MANE Select | NP_057016.1:n.-25G>C |