HGVS | Genome Assembly |
---|---|
NC_000015.10:g.31387813G>C , CM000677.2:g.31387813G>C | GRCh38 |
NC_000015.9:g.31680016G>C , CM000677.1:g.31680016G>C | GRCh37 |
NC_000015.8:g.29467308G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558921.1:n.224-47557G>C | ||
NM_001302461.1:c.578-47557G>C | NP_001289390.1:n.578-47557G>C | |
NM_001302461.2:c.578-47557G>C | NP_001289390.1:n.578-47557G>C |