HGVS | Genome Assembly |
---|---|
NC_000010.11:g.46046508G>C , CM000672.2:g.46046508G>C | GRCh38 |
NC_000010.10:g.51549314C>G , CM000672.1:g.51549314C>G | GRCh37 |
NC_000010.9:g.51219320C>G | NCBI36 |
NG_011551.1:g.4762C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000663171.1:c.-142-129C>G | ENSP00000499419.1:n.-142-129C>G |