HGVS | Genome Assembly |
---|---|
NC_000012.12:g.19626814G>C , CM000674.2:g.19626814G>C | GRCh38 |
NC_000012.11:g.19779748G>C , CM000674.1:g.19779748G>C | GRCh37 |
NC_000012.10:g.19671015G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512223.6:c.339-93819G>C | ENSP00000445587.1:n.339-93819G>C | |
XR_242921.2:n.252+23501G>C | ||
XR_931408.1:n.76+808G>C | ||
XR_001749034.2:n.472-23582G>C | ||
XR_001749035.1:n.525+23501G>C | ||
XR_001749036.1:n.526-22884G>C | ||
XR_001749037.1:n.275+23501G>C | ||
XR_002957408.1:n.133+808G>C |