HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897480C>G , CM000669.2:g.30897480C>G | GRCh38 |
NC_000007.13:g.30937095C>G , CM000669.1:g.30937095C>G | GRCh37 |
NC_000007.12:g.30903620C>G | NCBI36 |
NG_007475.2:g.49087C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.621+14487C>G |