HGVS | Genome Assembly |
---|---|
NC_000007.14:g.131128206A= , CM000669.2:g.131128206A= | GRCh38 |
NC_000007.13:g.130812965A= , CM000669.1:g.130812965A= | GRCh37 |
NC_000007.12:g.130463505A= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000416992.6:c.-418-14614A= | ENSP00000387920.1:n.-418-14614A= | |
ENST00000421797.6:c.-300-14614A= | ENSP00000398094.2:n.-300-14614A= | |
NM_001145354.1:c.-93-14614A= | NP_001138826.1:n.-93-14614A= | |
XM_024446767.1:c.-418-14614A= | XP_024302535.1:n.-418-14614A= | |
NM_001145354.2:c.-93-14614A= | NP_001138826.1:n.-93-14614A= |