Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423187T>G , CM000669.2:g.94423187T>G | GRCh38 |
| NC_000007.13:g.94052499T>G , CM000669.1:g.94052499T>G | GRCh37 |
| NC_000007.12:g.93890435T>G | NCBI36 |
| NG_007405.1:g.33627T>G , LRG_2:g.33627T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2565+69T>G MANE Select | ENSP00000297268.6:n.2565+69T>G | |
| ENST00000297268.10:c.2565+69T>G | ENSP00000297268.6:n.2565+69T>G | |
| ENST00000481570.5:n.717T>G | ||
| ENST00000620463.1:c.2559+69T>G | ENSP00000477719.1:n.2559+69T>G | |
| NM_000089.3:c.2565+69T>G , LRG_2t1:c.2565+69T>G | NP_000080.2:n.2565+69T>G | |
| NM_000089.4:c.2565+69T>G MANE Select | NP_000080.2:n.2565+69T>G |