HGVS | Genome Assembly |
---|---|
NC_000001.11:g.200923009T>C , CM000663.2:g.200923009T>C | GRCh38 |
NC_000001.10:g.200892137T>C , CM000663.1:g.200892137T>C | GRCh37 |
NC_000001.9:g.199158760T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435735.2:n.569+248T>C | ||
ENST00000635940.1:n.71+248T>C | ||
ENST00000435735.1:n.360+245T>C | ||
XR_241169.2:n.676+248T>C |