HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897467G>A , CM000669.2:g.30897467G>A | GRCh38 |
NC_000007.13:g.30937082G>A , CM000669.1:g.30937082G>A | GRCh37 |
NC_000007.12:g.30903607G>A | NCBI36 |
NG_007475.2:g.49074G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.621+14474G>A |