HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157109243C>G , CM000667.2:g.157109243C>G | GRCh38 |
NC_000005.9:g.156536254C>G , CM000667.1:g.156536254C>G | GRCh37 |
NC_000005.8:g.156468832C>G | NCBI36 |
NG_030444.1:g.4995G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-2281G>C | ENSP00000430328.2:n.-293-2281G>C | |
ENST00000696899.1:c.-260G>C | ENSP00000512960.1:n.-260G>C | |
ENST00000696900.1:c.-855G>C | ENSP00000512961.1:n.-855G>C | |
ENST00000696901.1:c.-260G>C | ENSP00000512962.1:n.-260G>C | |
ENST00000307851.8:c.-260G>C | ENSP00000312002.4:n.-260G>C | |
ENST00000524219.1:c.-293-2281G>C | ENSP00000430328.1:n.-293-2281G>C |