Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133534522G>A , CM000672.2:g.133534522G>A | GRCh38 |
| NC_000010.10:g.135348026G>A , CM000672.1:g.135348026G>A | GRCh37 |
| NC_000010.9:g.135198016G>A | NCBI36 |
| NG_008383.1:g.12160G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000773.4:c.967+625G>A MANE Select | NP_000764.1:n.967+625G>A |
| ENST00000252945.8:c.967+625G>A MANE Select | ENSP00000252945.3:n.967+625G>A |
| NM_000773.3:c.967+625G>A | NP_000764.1:n.967+625G>A |
| ENST00000252945.7:c.967+625G>A | ENSP00000252945.3:n.967+625G>A |
| ENST00000368520.1:n.1028+625G>A | |
| ENST00000418356.1:c.556+625G>A | ENSP00000397299.1:n.556+625G>A |
| ENST00000421586.5:c.706+625G>A | ENSP00000412754.1:n.706+625G>A |
| ENST00000463117.6:c.967+625G>A | ENSP00000440689.1:n.967+625G>A |
| ENST00000541080.5:c.383+1654G>A |