Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21997976G>A , CM000671.2:g.21997976G>A | GRCh38 |
| NC_000009.11:g.21997975G>A , CM000671.1:g.21997975G>A | GRCh37 |
| NC_000009.10:g.21987975G>A | NCBI36 |
| NG_007485.1:g.1516C>T , LRG_11:g.1516C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.348-31457G>A | ENSP00000385916.2:n.348-31457G>A | |
| ENST00000404796.2:c.348-31457G>A | ENSP00000385916.2:n.348-31457G>A | |
| NR_003529.3:n.371+2815G>A | ||
| NR_047532.1:n.371+2815G>A | ||
| NR_047533.1:n.371+2815G>A | ||
| NR_047534.1:n.371+2815G>A | ||
| NR_047535.1:n.371+2815G>A | ||
| NR_047536.1:n.371+2815G>A | ||
| NR_047537.1:n.371+2815G>A | ||
| NR_047538.1:n.371+2815G>A | ||
| NR_047539.1:n.371+2815G>A | ||
| NR_047540.1:n.371+2815G>A | ||
| NR_047541.1:n.371+2815G>A | ||
| NR_047542.1:n.371+2815G>A | ||
| NR_047543.1:n.371+2815G>A | ||
| NR_120536.1:n.371+2815G>A |