HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897492C>T , CM000669.2:g.30897492C>T | GRCh38 |
NC_000007.13:g.30937107C>T , CM000669.1:g.30937107C>T | GRCh37 |
NC_000007.12:g.30903632C>T | NCBI36 |
NG_007475.2:g.49099C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.621+14499C>T |