HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96265904C>G , CM000664.2:g.96265904C>G | GRCh38 |
NC_000002.11:g.96931642C>G , CM000664.1:g.96931642C>G | GRCh37 |
NC_000002.10:g.96295369C>G | NCBI36 |
NG_027695.1:g.5110G>C , LRG_528:g.5110G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258439.8:c.-167G>C MANE Select | ENSP00000258439.3:n.-167G>C | |
ENST00000258439.7:c.-167G>C | ENSP00000258439.2:n.-167G>C | |
ENST00000432959.1:c.-144G>C | ENSP00000416660.1:n.-144G>C | |
NM_001193304.2:c.-144G>C | NP_001180233.1:n.-144G>C | |
NM_017849.3:c.-167G>C , LRG_528t1:c.-167G>C | NP_060319.1:n.-167G>C | |
NM_001193304.3:c.-144G>C | NP_001180233.1:n.-144G>C | |
NM_017849.4:c.-167G>C MANE Select | NP_060319.1:n.-167G>C |