Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425237C>G , CM000669.2:g.94425237C>G | GRCh38 |
| NC_000007.13:g.94054549C>G , CM000669.1:g.94054549C>G | GRCh37 |
| NC_000007.12:g.93892485C>G | NCBI36 |
| NG_007405.1:g.35677C>G , LRG_2:g.35677C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2781+13C>G MANE Select | ENSP00000297268.6:n.2781+13C>G | |
| ENST00000297268.10:c.2781+13C>G | ENSP00000297268.6:n.2781+13C>G | |
| ENST00000469732.1:n.564+13C>G | ||
| ENST00000481570.5:n.2754+13C>G | ||
| ENST00000620463.1:c.2775+13C>G | ENSP00000477719.1:n.2775+13C>G | |
| NM_000089.3:c.2781+13C>G , LRG_2t1:c.2781+13C>G | NP_000080.2:n.2781+13C>G | |
| NM_000089.4:c.2781+13C>G MANE Select | NP_000080.2:n.2781+13C>G |