HGVS | Genome Assembly |
---|---|
NC_000012.12:g.19626805A>C , CM000674.2:g.19626805A>C | GRCh38 |
NC_000012.11:g.19779739A>C , CM000674.1:g.19779739A>C | GRCh37 |
NC_000012.10:g.19671006A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000512223.6:c.339-93828A>C | ENSP00000445587.1:n.339-93828A>C | |
XR_242921.2:n.252+23492A>C | ||
XR_931408.1:n.76+799A>C | ||
XR_001749034.2:n.472-23591A>C | ||
XR_001749035.1:n.525+23492A>C | ||
XR_001749036.1:n.526-22893A>C | ||
XR_001749037.1:n.275+23492A>C | ||
XR_002957408.1:n.133+799A>C |