HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30897500T>A , CM000669.2:g.30897500T>A | GRCh38 |
NC_000007.13:g.30937115T>A , CM000669.1:g.30937115T>A | GRCh37 |
NC_000007.12:g.30903640T>A | NCBI36 |
NG_007475.2:g.49107T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000509504.2:c.622-14493T>A |