Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420653G>A , CM000669.2:g.94420653G>A | GRCh38 |
| NC_000007.13:g.94049965G>A , CM000669.1:g.94049965G>A | GRCh37 |
| NC_000007.12:g.93887901G>A | NCBI36 |
| NG_007405.1:g.31093G>A , LRG_2:g.31093G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2295+5G>A MANE Select | NP_000080.2:n.2295+5G>A |
| ENST00000297268.11:c.2295+5G>A MANE Select | ENSP00000297268.6:n.2295+5G>A |
| NM_000089.3:c.2295+5G>A , LRG_2t1:c.2295+5G>A | NP_000080.2:n.2295+5G>A |
| ENST00000297268.10:c.2295+5G>A | ENSP00000297268.6:n.2295+5G>A |
| ENST00000461525.5:n.384+5G>A | |
| ENST00000467931.1:n.320G>A | |
| ENST00000473573.5:n.632+5G>A | |
| ENST00000497316.5:n.692+5G>A | |
| ENST00000620463.1:c.2289+5G>A | ENSP00000477719.1:n.2289+5G>A |