HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897513A>G , CM000669.2:g.30897513A>G | GRCh38 |
NC_000007.13:g.30937128A>G , CM000669.1:g.30937128A>G | GRCh37 |
NC_000007.12:g.30903653A>G | NCBI36 |
NG_007475.2:g.49120A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.622-14480A>G |