HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30911648G>A , CM000669.2:g.30911648G>A | GRCh38 |
NC_000007.13:g.30951263G>A , CM000669.1:g.30951263G>A | GRCh37 |
NC_000007.12:g.30917788G>A | NCBI36 |
NG_007475.2:g.63255G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000509504.2:c.622-345G>A |