Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423240G>A , CM000669.2:g.94423240G>A | GRCh38 |
| NC_000007.13:g.94052552G>A , CM000669.1:g.94052552G>A | GRCh37 |
| NC_000007.12:g.93890488G>A | NCBI36 |
| NG_007405.1:g.33680G>A , LRG_2:g.33680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2565+122G>A MANE Select | ENSP00000297268.6:n.2565+122G>A | |
| ENST00000297268.10:c.2565+122G>A | ENSP00000297268.6:n.2565+122G>A | |
| ENST00000481570.5:n.770G>A | ||
| ENST00000620463.1:c.2559+122G>A | ENSP00000477719.1:n.2559+122G>A | |
| NM_000089.3:c.2565+122G>A , LRG_2t1:c.2565+122G>A | NP_000080.2:n.2565+122G>A | |
| NM_000089.4:c.2565+122G>A MANE Select | NP_000080.2:n.2565+122G>A |