HGVS | Genome Assembly |
---|---|
NC_000006.12:g.28162315T>C , CM000668.2:g.28162315T>C | GRCh38 |
NC_000006.11:g.28130093T>C , CM000668.1:g.28130093T>C | GRCh37 |
NC_000006.10:g.28238072T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000562227.2:n.54-294T>C | ||
ENST00000440790.6:n.42-265T>C | ||
ENST00000570126.1:n.31-265T>C | ||
NR_103448.1:n.62-265T>C |