HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196883651T>C , CM000663.2:g.196883651T>C | GRCh38 |
NC_000001.10:g.196852781T>C , CM000663.1:g.196852781T>C | GRCh37 |
NC_000001.9:g.195119404T>C | NCBI36 |
NG_028159.1:g.638T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649395.1:n.427-955T>C | ||
ENST00000367421.4:c.58+63749T>C | ENSP00000356391.3:n.58+63749T>C | |
ENST00000608469.5:c.43+25243T>C | ENSP00000477162.1:n.43+25243T>C |