HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041539T>C , CM000674.2:g.56041539T>C | GRCh38 |
NC_000012.11:g.56435323T>C , CM000674.1:g.56435323T>C | GRCh37 |
NC_000012.10:g.54721590T>C | NCBI36 |
NG_023201.1:g.4638T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+143T>C | ENSP00000348849.5:n.-357+143T>C | |
XR_944989.1:n.174A>G | ||
XR_944990.1:n.174A>G | ||
XR_944989.3:n.465A>G | ||
XR_944990.3:n.465A>G |