HGVS | Genome Assembly |
---|---|
NC_000010.11:g.117068176G>C , CM000672.2:g.117068176G>C | GRCh38 |
NC_000010.10:g.118827687G>C , CM000672.1:g.118827687G>C | GRCh37 |
NC_000010.9:g.118817677G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392901.10:c.-188-19666C>G | ENSP00000376635.4:n.-188-19666C>G | |
ENST00000392901.8:c.-188-19666C>G | ENSP00000376635.4:n.-188-19666C>G | |
NM_001258300.1:c.-188-19666C>G | NP_001245229.1:n.-188-19666C>G |