HGVS | Genome Assembly |
---|---|
NC_000004.12:g.107194003C>A , CM000666.2:g.107194003C>A | GRCh38 |
NC_000004.11:g.108115160C>A , CM000666.1:g.108115160C>A | GRCh37 |
NC_000004.10:g.108334609C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000510463.1:c.-83-5478G>T | ENSP00000423797.1:n.-83-5478G>T | |
ENST00000513208.5:c.-177-5478G>T | ENSP00000421255.1:n.-177-5478G>T |