HGVS | Genome Assembly |
---|---|
NC_000004.12:g.107193965C>T , CM000666.2:g.107193965C>T | GRCh38 |
NC_000004.11:g.108115122C>T , CM000666.1:g.108115122C>T | GRCh37 |
NC_000004.10:g.108334571C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000510463.1:c.-83-5440G>A | ENSP00000423797.1:n.-83-5440G>A | |
ENST00000513208.5:c.-177-5440G>A | ENSP00000421255.1:n.-177-5440G>A |