Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22000228A>C , CM000671.2:g.22000228A>C | GRCh38 |
| NC_000009.11:g.22000227A>C , CM000671.1:g.22000227A>C | GRCh37 |
| NC_000009.10:g.21990227A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404796.3:c.348-29205A>C | ENSP00000385916.2:n.348-29205A>C | |
| ENST00000404796.2:c.348-29205A>C | ENSP00000385916.2:n.348-29205A>C | |
| NR_003529.3:n.371+5067A>C | ||
| NR_047532.1:n.371+5067A>C | ||
| NR_047533.1:n.371+5067A>C | ||
| NR_047534.1:n.371+5067A>C | ||
| NR_047535.1:n.371+5067A>C | ||
| NR_047536.1:n.371+5067A>C | ||
| NR_047537.1:n.371+5067A>C | ||
| NR_047538.1:n.371+5067A>C | ||
| NR_047539.1:n.371+5067A>C | ||
| NR_047540.1:n.371+5067A>C | ||
| NR_047541.1:n.371+5067A>C | ||
| NR_047542.1:n.371+5067A>C | ||
| NR_047543.1:n.371+5067A>C | ||
| NR_120536.1:n.371+5067A>C |