HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897514C>T , CM000669.2:g.30897514C>T | GRCh38 |
NC_000007.13:g.30937129C>T , CM000669.1:g.30937129C>T | GRCh37 |
NC_000007.12:g.30903654C>T | NCBI36 |
NG_007475.2:g.49121C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.622-14479C>T |