HGVS | Genome Assembly |
---|---|
NC_000009.12:g.22114948G>A , CM000671.2:g.22114948G>A | GRCh38 |
NC_000009.11:g.22114947G>A , CM000671.1:g.22114947G>A | GRCh37 |
NC_000009.10:g.22104947G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
NR_003529.3:n.2908+1149G>A | ||
NR_047532.1:n.1697+1149G>A | ||
NR_047534.1:n.961+1149G>A | ||
NR_047535.1:n.856+2553G>A | ||
NR_047536.1:n.720+2553G>A | ||
NR_047537.1:n.781-5252G>A | ||
NR_047538.1:n.645-5252G>A | ||
NR_047543.1:n.990+1149G>A | ||
NR_120536.1:n.645-5556G>A |