HGVS | Genome Assembly |
---|---|
NC_000012.12:g.19648593A>T , CM000674.2:g.19648593A>T | GRCh38 |
NC_000012.11:g.19801527A>T , CM000674.1:g.19801527A>T | GRCh37 |
NC_000012.10:g.19692794A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512223.6:c.339-72040A>T | ENSP00000445587.1:n.339-72040A>T | |
XR_242921.2:n.253-1803A>T | ||
XR_931408.1:n.77-1803A>T | ||
XR_001749034.2:n.472-1803A>T | ||
XR_001749035.1:n.526-1803A>T | ||
XR_001749036.1:n.526-1105A>T | ||
XR_001749037.1:n.276-1803A>T | ||
XR_002957408.1:n.134-1803A>T |