HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762644G>A , CM000672.2:g.94762644G>A | GRCh38 |
NC_000010.10:g.96522401G>A , CM000672.1:g.96522401G>A | GRCh37 |
NC_000010.9:g.96512391G>A | NCBI36 |
NG_008384.2:g.4939G>A | |
NG_008384.3:g.4964G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.7:c.-62G>A | ENSP00000360372.3:n.-62G>A | |
ENST00000464755.1:c.932-12414G>A | ENSP00000483243.1:n.932-12414G>A |