HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711456G>C , CM000677.2:g.44711456G>C | GRCh38 |
NC_000015.9:g.45003654G>C , CM000677.1:g.45003654G>C | GRCh37 |
NC_000015.8:g.42790946G>C | NCBI36 |
NG_012920.1:g.4970G>C | |
NG_012920.2:g.4980G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695792.1:n.83+16G>C |