HGVS | Genome Assembly |
---|---|
NC_000005.10:g.119452472C>G , CM000667.2:g.119452472C>G | GRCh38 |
NC_000005.9:g.118788167C>G , CM000667.1:g.118788167C>G | GRCh37 |
NC_000005.8:g.118816066C>G | NCBI36 |
NG_008182.1:g.5020C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683936.1:c.-104C>G | ENSP00000507721.1:n.-104C>G | |
ENST00000256216.10:c.-104C>G | ENSP00000256216.6:n.-104C>G | |
NM_000414.3:c.-104C>G | NP_000405.1:n.-104C>G | |
NM_001199292.1:c.-104C>G | NP_001186221.1:n.-104C>G | |
NM_001292027.1:c.-241C>G | NP_001278956.1:n.-241C>G |