HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148825489A>T , CM000667.2:g.148825489A>T | GRCh38 |
NC_000005.9:g.148205052A>T , CM000667.1:g.148205052A>T | GRCh37 |
NC_000005.8:g.148185245A>T | NCBI36 |
NG_016421.1:g.3897A>T | |
NG_016421.2:g.3897A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.5:c.-1343A>T | ENSP00000305372.4:n.-1343A>T |