HGVS | Genome Assembly |
---|---|
NC_000009.12:g.22000433A>C , CM000671.2:g.22000433A>C | GRCh38 |
NC_000009.11:g.22000432A>C , CM000671.1:g.22000432A>C | GRCh37 |
NC_000009.10:g.21990432A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404796.3:c.348-29000A>C | ENSP00000385916.2:n.348-29000A>C | |
ENST00000404796.2:c.348-29000A>C | ENSP00000385916.2:n.348-29000A>C | |
NR_003529.3:n.371+5272A>C | ||
NR_047532.1:n.371+5272A>C | ||
NR_047533.1:n.371+5272A>C | ||
NR_047534.1:n.371+5272A>C | ||
NR_047535.1:n.371+5272A>C | ||
NR_047536.1:n.371+5272A>C | ||
NR_047537.1:n.371+5272A>C | ||
NR_047538.1:n.371+5272A>C | ||
NR_047539.1:n.371+5272A>C | ||
NR_047540.1:n.371+5272A>C | ||
NR_047541.1:n.371+5272A>C | ||
NR_047542.1:n.371+5272A>C | ||
NR_047543.1:n.371+5272A>C | ||
NR_120536.1:n.371+5272A>C |